nach oben

Erschienen in:

2020 | OriginalPaper | Buchkapitel

13. Genetik menschlicher Erkrankungen

verfasst von : Jochen Graw

Erschienen in: Genetik

Verlag: Springer Berlin Heidelberg

Einloggen

Aktivieren Sie unsere intelligente Suche, um passende Fachinhalte oder Patente zu finden.

search-config

KI-gestützte Suche

Aus

Zusammenfassung

Obgleich sich die Vererbung von Eigenschaften des Menschen in ihren Grundprinzipien und Regeln nicht von denen anderer Organismen unterscheidet, stellt sie den Genetiker vor besondere Probleme. Die Erforschung der genetischen Grundlage menschlicher Krankheiten wird oft durch die Familiengröße limitiert. In der klassischen Humangenetik waren Familienstammbäume das wichtigste Werkzeug. Manche grundsätzlichen Fragen ließen sich zudem durch die vergleichende Untersuchung von Zwillingen lösen. In der Praxis boten diese Analysen aber meistens nur die Möglichkeit, Wahrscheinlichkeitsaussagen über das Vorkommen von Erbkrankheiten bei Kindern betroffener Eltern zu machen.

Sie haben noch keine Lizenz? Dann Informieren Sie sich jetzt über unsere Produkte:

Springer Professional "Wirtschaft+Technik"

Online-Abonnement

Mit Springer Professional "Wirtschaft+Technik" erhalten Sie Zugriff auf:

über 102.000 Bücher
über 537 Zeitschriften

aus folgenden Fachgebieten:

Automobil + Motoren
Bauwesen + Immobilien
Business IT + Informatik
Elektrotechnik + Elektronik
Energie + Nachhaltigkeit
Finance + Banking
Management + Führung
Marketing + Vertrieb
Maschinenbau + Werkstoffe
Versicherung + Risiko

Jetzt Wissensvorsprung sichern!

Jetzt informieren

Springer Professional "Technik"

Online-Abonnement

Mit Springer Professional "Technik" erhalten Sie Zugriff auf:

über 67.000 Bücher
über 390 Zeitschriften

aus folgenden Fachgebieten:

Automobil + Motoren
Bauwesen + Immobilien
Business IT + Informatik
Elektrotechnik + Elektronik
Energie + Nachhaltigkeit
Maschinenbau + Werkstoffe

Jetzt Wissensvorsprung sichern!

Jetzt informieren

Vorheriges Kapitel Entwicklungsgenetik

Nächstes Kapitel Verhaltens- und Neurogenetik

Abramowitz LK, Olivier-Van Stichelen S, Hanover JA (2014) Chromosome imbalance as a driver of sex disparity in disease. J Genomics 2:77–88PubMedPubMedCentral

Anderson D (1938) Cystic fibrosis of the pancreas and its relation to celiac disease. Am J Dis Child 56:344–399

Ashcroft FM, Rorsman P (2012) Diabetes mellitus and the β cell: the last ten years. Cell 148:1160–1171PubMedPubMedCentral

Aumann I, Prenzler A, Welte T et al (2014) Epidemiologie und Kosten von Asthma bronchiale in Deutschland – eine systematische Literaturrecherche. Pneumologie 68:557–567PubMed

Bachtrog D (2013) Y-chromosome evolution: emerging insights into processes of Y-chromosome degeneration. Nat Rev Genet 14:113–124PubMedPubMedCentral

Bates GP, Dorsey R, Gusella JF et al (2015) Huntington disease. Nat Rev Dis Primers 1:15005PubMed

Beet EA (1949) The genetics of sickle cell trait in a Bantu tribe. Ann Eugen 14:279PubMed

Bennett RL, French KS, Resta RG et al (2008) Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors. J Genet Couns 17:424–433PubMed

Bobadilla JL, Macek M Jr, Fine JP et al (2002) Cystic fibrosis: a worldwide analysis of CFTR mutations-correlation with incidence data and application to screening. Hum Mutat 19:575–606PubMed

Boveri T (1902) Über mehrpolige Mitosen als Mittel zur Analyse des Zellkerns. Verh Phys Med Ges Würzburg 35:67–90 (Neue Folge)

Buselmaier W, Tariverdian G (2007) Humangenetik, 4. Aufl. Springer, Heidelberg

Carelli V, Ross-Cisneros FN, Sadun AA (2002) Optic nerve degeneration and mitochondrial dysfunction: genetic and acquired optic neuropathies. Neurochem Intern 40:573–584

Cattaneo E, Zuccato C, Tartari M (2005) Normal huntingtin function: an alternative approach to Huntington’s disease. Nat Rev Neurosci 6:919–930PubMed

Černá M (2008) Genetics of autoimmune diabetes mellitus. Wien Med Wochenschr 158:2–12PubMed

Chinnam M, Goodrich DW (2011) RB1, development, and cancer. Curr Top Dev Biol 94:129–169PubMedPubMedCentral

Cooke RA, van der Veer A (1916) Human sensitization. J Immunol 1:201–305

Desai M, Jellyman JK, Ross MG (2015) Epigenomics, gestational programming and risk of metabolic syndrome. Int J Obes 39:633–641

Dimaras H, Corson TW, Cobrinik D et al (2015) Retinoblastoma. Nat Rev Dis Primers 1:15021PubMedPubMedCentral

van Dongen J, Slagboom PE, Draisma HH et al (2012) The continuing value of twin studies in the omics era. Nat Rev Genet 13:640–653PubMed

Dorajoo R, Liu J, Boehm BO (2015) Genetics of type 2 diabetes and clinical utility. Genes 6:372–384PubMedPubMedCentral

Dulbecco R (1986) A turning point in cancer research: sequencing the human genome. Science 231:1055–1056PubMed

van Eerdewegh P, Little RD, Dupuis J et al (2002) Association of the ADAM33 gene with asthma and bronchial hyperresponsiveness. Nature 418:426–430PubMed

Estivill X, Bancells C, Ramos C et al (1997) Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. Hum Mutat 10:135–154PubMed

Ewens WJ, Spielman RS (2005) What is the significance of a significant TDT? Hum Hered 60:206–210PubMed

Fairclough RJ, Wood MJ, Davies KE (2013) Therapy for Duchenne muscular dystrophy: renewed optimism from genetic approaches. Nat Rev Genet 14:373–378PubMed

Fellin R, Arca M, Zuliani G et al (2015) The history of autosomal recessive hypercholesterolemia (ARH). From clinical observations to gene identification. Gene 555:23–32PubMed

Floriani MA, Vilas Boas MR, Rosa RFM et al (2017) Report of a patient with fragile X syndrome unexpectedly identified by karyotype analysis. J Bras Patol Med Lab 53:87–88

Følling A (1934) Über Ausscheidung von Phenylbrenztraubensäure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillität. Z Physiol Chem 227:169–176

Frayling TM (2007) Genome-wide association studies provide new insights into type 2 diabetes aetiology. Nat Rev Genet 8:657–662PubMed

Fuchsberger C, Flannick J, Teslovich TM et al (2016) The genetic architecture of type 2 diabetes. Nature 536:41–47PubMedPubMedCentral

Gabriel SE, Brigman KN, Koller BH et al (1994) Cystic fibrosis heterozygote resistance to cholera toxin in the cystic fibrosis mouse model. Science 266:107–109PubMed

Galanis E, Markovic SN, Suman VJ et al (2012) Phase II trial of intravenous administration of Reolysin^® (Reovirus Serotype-3-dearing Strain) in patients with metastatic melanoma. Mol Ther 20:1998–2003PubMedPubMedCentral

Galton F (1875) The history of twins as a criterion of the relative powers of nature and nurture. J R Anthropol Inst Gb Irl 5:391–406

Garone C, Viscomi C (2018) Towards a therapy for mitochondrial disease: an update. Biochem Soc Trans 46:1247–1261PubMedPubMedCentral

Gendiagnostik-Kommission (2013) Tätigkeitsbericht. Robert-Koch-Institut, Berlin

George LA, Sullivan SK, Giermasz A et al (2017) Hemophilia B gene therapy with a high-specific-activity factor IX variant. N Engl J Med 377:2215–2227PubMedPubMedCentral

Gießelmann K (2018) Die ersten CRISPR-Babies. Dtsch Arztebl 115:A2278–A2279

Goldstein JL, Brown MS (2015) A century of cholesterol and coronaries: from plaques to genes to statins. Cell 161:161–172PubMedPubMedCentral

Graw J, Brackmann HH, Oldenburg J et al (2005) Haemophilia A: from mutation analysis to new therapies. Nat Rev Genet 6:488–501PubMed

Grønskov K, Ek J, Brondum-Nielsen K (2007) Oculocutaneous albinism. Orphanet J Rare Dis 2:43PubMedPubMedCentral

Haldane JBS (1919) The combination of linkage values, and the calculation of distances between the loci of linked factors. J Genet 8:299–309

Haldane JBS, Sprunt AD, Haldane NM (1915) Reduplication in mice. J Genet 5:133–135

zur Hausen H (2009) Papillomaviruses in the causation of human cancers – a brief historical account. Virology 384:260–265PubMed

Herrick JB (1910) Peculiar elongated and sickle-shaped blood corpuscules in a case of severe anemia. Arch Int Med 6:517–521

Horton WA, Hall JG, Hecht JT (2007) Achondroplasia. Lancet 370:162–172PubMed

Hotta A, Yamanaka S (2015) From genomics to gene therapy: induced pluripotent stem cells meet genome editing. Annu Rev Genet 49:47–70PubMed

Hughes JF, Page DC (2015) The biology and evolution of mammalian Y chromosomes. Annu Rev Genet 49:507–527PubMed

Humbert O, Davis L, Maizels N (2012) Targeted gene therapies: tools, applications, optimization. Crit Rev Biochem Mol Biol 47:264–281PubMedPubMedCentral

Huoponen K (2001) Leber hereditary optic neuropathy: clinical and molecular genetic findings. Neurogenetics 3:119–125PubMed

Iacono WG, Heath AC, Hewitt JK et al (2018) The utility of twins in developmental cognitive neuroscience research: how twins strengthen the ABCD research design. Dev Cogn Neurosci 32:30–42PubMed

Ingram VM (1956) A specific chemical difference between the globins of normal human and sickle-cell anaemia haemoglobin. Nature 178:792–794PubMed

James AH (2010) Women and bleeding disorders. Haemophilia 16(Suppl 5):160–167PubMed

Jiaox X, Khan SY, Irum B et al (2015) Missense mutations in CRYAB are liable for recessive congenital cataracts. PLoS ONE 10:e137973PubMedCentral

Jobling MA, Gill P (2004) Encoded evidence: DNA in forensic analysis. Nat Rev Genet 5:739–751PubMed

Jones S, Anagnostou V, Lytle K et al (2015) Personalized genomic analyses for cancer mutation discovery and interpretation. Sci Transl Med 7:283ra53PubMedPubMedCentral

Khurana TS, Davies KE (2003) Pharmacological strategies for muscular dystrophy. Nat Rev Drug Discov 2:379–390PubMed

Kido T, Lau YF (2015) Roles of the Y chromosome genes in human cancers. Asian J Androl 17:373–380PubMedPubMedCentral

Klag KA, Horton WA (2016) Advances in treatment of achondroplasia and osteoarthritis. Hum Mol Genet 25:R2–R8PubMed

Knudson AG (2001) Two genetic hits (more or less) to cancer. Nat Rev Cancer 1:157–162 (170)PubMed

Kono T, Obata Y, Wu Q et al (2004) Birth of parthenogenetic mice that can develop to adulthood. Nature 428:860–864PubMed

Kraan CM, Godler DE, Amor DJ (2019) Epigenetics of fragile X syndrome and fragile X-related disorders. Dev Med Child Neurol 61:121–127PubMed

Kumar AA, Shantha GP, Srinivasan Y et al (2008) Acute myocardial infarction in an 18 year old South Indian girl with familial hypercholesterolemia: a case report. Cases J 1:71PubMedPubMedCentral

Kunkel TA (1992) DNA replication fidelity. J Biol Chem 267:18251–18254PubMed

Lahn BT, Pearson NM, Jegalian K (2001) The human Y chromosome, in the light of evolution. Nat Rev Genet 2:207–216PubMed

Lana-Elola E, Watson-Scales SD, Fisher EM et al (2011) Down syndrome: searching for the genetic culprits. Dis Model Mech 4:586–595PubMedPubMedCentral

Lannoy N, Hermans C (2018) Review of molecular mechanisms at distal Xq28 leading to balanced or unbalanced genomic rearrangements and their phenotypic impacts on hemophilia. Haemophilia 24:711–719PubMed

Lee JU, Kim JD, Park CS (2015) Gene-environment interactions in asthma: genetic and epigenetic effects. Yonsei Med J 56:877–886PubMedPubMedCentral

Leibeling D, Laspe P, Emmert S (2006) Nucleotide excision repair and cancer. J Mol Hist 37:225–238

Li JR, Walker S, Nie JB et al (2019) Experiments that led to the first gene-edited babies: the ethical failings and the urgent need for better governance. J Zhejiang Univ Sci B 20:32–38PubMedPubMedCentral

Liang P, Xu Y, Zhang X et al (2015) CRISPR/Cas9-mediated gene editing in human tripronuclear zygotes. Protein Cell 6:363–372PubMedPubMedCentral

Liao Z, Zhao J, Zhu Y et al (2007) The ND4 G11696A mutation may influence the phenotypic manifestation of the deafness-associated 12S rRNA A1555G mutation in a four-generation Chinese family. Biochem Biophys Res Commun 362:670–676PubMedPubMedCentral

Lo YMD, Corbetta N, Chamberlain PF et al (1997) Presence of fetal DNA in maternal plasma and serum. Lancet 350:485–487PubMed

Loane M, Morris JK, Addor MC et al (2013) Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening. Eur J Hum Genet 21:27–33PubMed

Loftus PA, Wise SK (2016) Epidemiology of asthma. Curr Opin Otolaryngol Head Neck Surg 24:245–249PubMed

Lu S, Zhao C, Jiao H et al (2007) Two Chinese families with pulverulent congenital cataracts and ∆G91 CRYBA1 mutations. Mol Vis 13:1154–1160PubMed

Lynch TJ, Bell DW, Sordella R et al (2004) Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to Gefitinib. N Engl J Med 350:2129–2139PubMed

MacDonald ME (1998) Molecular genetics of Huntington’s disease. In: Oostra BA (Hrsg) Trinucleotide Diseases and Instability. Springer, Berlin, S 47–75

MacLennan M, Crichton JH, Playfoot CJ et al (2015) Oocyte development, meiosis and aneuploidy. Semin Cell Dev Biol 45:68–76PubMedPubMedCentral

Mahalingam D, Goel S, Aparo S et al (2018) A phase II study of Pelareorep (REOLYSIN^®) in combination with Gemcitabine for patients with advanced pancreatic adenocarcinoma. Cancers 10:E160.CrossRefPubMed

Matise TC, Chen F, Chen W et al (2007) A second-generation combined linkage physical map of the human genome. Genome Res 17:1783–1786PubMedPubMedCentral

McCoy MS, Bargmann CI, Weinberg RA (1984) Human colon carcinoma Ki-ras2 oncogene and its corresponding proto-oncogene. Mol Cell Biol 4:1577–1582PubMedPubMedCentral

Meindl A, Ditsch N, Kast K et al (2011) Hereditary breast and ovarian cancer – new genes, new treatments, new concepts. Dtsch Arztebl Int 108:323–330PubMedPubMedCentral

Meyers DA, Bleecker ER, Holloway JW et al (2014) Asthma genetics and personalised medicine. Lancet Respir Med 2:405–415PubMedPubMedCentral

Mila M, Alvarez-Mora MI, Madrigal I et al (2018) Fragile X syndrome: an overview and update of the FMR1 gene. Clin Genet 93:197–205PubMed

Minear MA, Alessi S, Allyse M et al (2015) Noninvasive prenatal genetic testing: current and emerging ethical, legal, and social issues. Annu Rev Genomics Hum Genet 16:369–398PubMed

Morán M, Moreno-Lastres D, Marín-Buera L et al (2012) Mitochondrial respiratory chain dysfunction: implications in neurodegeneration. Free Radic Biol Med 53:595–609PubMed

Morton NE (1955) Sequential tests for the detection of linkage. Am J Hum Genet 7:277–318PubMedPubMedCentral

Muller HJ (1951) Radiation damage to genetic material. Sci Prog 7:93–165

Nagaoka SI, Hassold TJ, Hunt PA (2012) Human aneuploidy: mechanisms and new insights into an age-old problem. Nat Rev Genet 13:493–504PubMedPubMedCentral

Naso MF, Tomkowicz B, Perry WL 3rd et al (2017) Adeno-associated virus (AAV) as a vector for gene therapy. BioDrugs 31:317–334PubMedPubMedCentral

Neel JV (1949) The inheritance of sickle cell anaemia. Science 110:64–66PubMed

Neel JV, Schull WJ (1954) Human Heredity. University of Chicago Press, Chicago

Noronha AS, Markowitz LE, Dunne EF (2014) Systematic review of human papillomavirus vaccine coadministration. Vaccine 32:2670–2674PubMed

Ogino S, Gulley ML, den Dunnen JT et al (2007) Standard mutation nomenclature in molecular diagnostics: practical and educational challenges. J Mol Diagn 9:1–6 (Erratum in: J Mol Diagn (2009) 11:494)PubMedPubMedCentral

Paez JG, Jänne PA, Lee JC et al (2004) EGFR mutations in lung cancer: correlation with clinical response to Gefitinib therapy. Science 304:1497–1500PubMed

Pauling L, Itano HA, Singer SJ et al (1949) Sickle cell anemia, a molecular disease. Science 110:543–548PubMed

Peragallo JH, Newman NJ (2015) Is there treatment for Leber hereditary optic neuropathy? Curr Opin Ophthalmol 26:450–457PubMedPubMedCentral

Pickar AK, Gersbach CA (2018) Gene therapies for hemophilia hit the mark in clinical trials. Nat Med 24:121–122PubMed

Polderman TJ, Benyamin B, de Leeuw CA et al (2015) Meta-analysis of the heritability of human traits based on fifty years of twin studies. Nat Genet 47:702–709PubMed

Portrait F, Teeuwiszen E, Deeg D (2011) Early life undernutrition and chronic diseases at older ages: the effects of the Dutch famine on cardiovascular diseases and diabetes. Soc Sci Med 73:711–718PubMed

Rangarajan S, Walsh L, Lester W et al (2017) AAV5-factor VIII gene transfer in severe hemophilia A. N Engl J Med 377:2519–2530PubMed

Ratner N, Miller SJ (2015) A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor. Nat Rev Cancer 15:290–301PubMedPubMedCentral

Reinhardt HC, Schumacher B (2012) The p53 network: cellular and systemic DNA damage responses in aging and cancer. Trends Genet 28:128–136PubMedPubMedCentral

Reynolds CA, Finkel D (2015) A meta-analysis of heritability of cognitive aging: minding the “missing heritability” gap. Neuropsychol Rev 25:97–112PubMedPubMedCentral

Robertson CC, Rich SS (2018) Genetics of type 1 diabetes. Curr Opin Genet Dev 50:7–16PubMed

Robinson-Hamm JN, Gersbach CA (2016) Gene therapies that restore dystrophin expression for the treatment of Duchenne muscular dystrophy. Hum Genet 135:1029–1040PubMedPubMedCentral

Rodino-Klapac LR, Mendell JR, Sahenk Z (2013) Update on the treatment of Duchenne muscular dystrophy. Curr Neurol Neurosci Rep 13:332PubMedPubMedCentral

Romey MC (2006) Caractérisation fonctionnelle de mutants CFTR naturels: intérêt pour la mucoviscidose. Ann Biol Clin 64:429–438

Rosenfeld CS (2017) Brain sexual differentiation and requirement of SRY: why or why not? Front Neurosci 11:632PubMedPubMedCentral

Sakai LY, Keene DR, Renard M et al (2016) FBN1: the disease-causing gene for Marfan syndrome and other genetic disorders. Gene 591:279–291PubMedPubMedCentral

Santoro MR, Bray SM, Warren ST (2012) Molecular mechanisms of fragile X syndrome: a twenty-year perspective. Annu Rev Pathol 7:219–245PubMed

Schaaf CP, Zschocke J (2018) Basiswissen Humangenetik. Springer, Heidelberg

Schaefer MH, Wanker EE, Andrade-Navarro MA (2012) Evolution and function of CAG/polyglutamine repeats in protein-protein interaction networks. Nucleic Acids Res 40:4273–4287PubMedPubMedCentral

Schröder PC, Li J, Wong GW et al (2015) The rural-urban enigma of allergy: what can we learn from studies around the world? Pediatr Allergy Immunol 26:95–102PubMed

Schulz WA (2005) Molecular Biology of Human Cancers. Springer, Dordrecht

Shannon KM, Fraint A (2015) Therapeutic advances in Huntington’s disease. Mov Disord 30:1539–1546PubMed

Shriner D, Rotimi CN (2018) Whole-genome-sequence-based haplotypes reveal single origin of the sickle allele during the Holocene wet phase. Am J Hum Genet 102:547–556PubMedPubMedCentral

Siemens HW (1924) Die Zwillingspathologie: Ihre Bedeutung, ihre Methodik, ihre bisherigen Ergebnisse. Springer, Berlin

Sillence KA, Madgett TE, Roberts LA et al (2013) Non-invasive screening tools for Down’s syndrome: a review. Diagnostics (Basel) 3:291–314

Singh RH, Rohr F, Frazier D et al (2014) Recommendations for the nutrition management of phenylalanine hydroxylase deficiency. Genet Med 16:121–131PubMedPubMedCentral

Sohail A, Imtiaz F (2015) A classical case of Duchenne muscular dystrophy. Hereditary Genet 4:1

Speicher M, Antonarakis SE, Motulsky AG (2010) Vogel and Motulsky’s Human Genetics: Problems and Approaches, 4. Aufl. Springer, Berlin

Spielberg DR, Clancy JP (2016) Cystic fibrosis and its management through established and emerging therapies. Annu Rev Genomics Hum Genet 17:155–175PubMed

Strachan T, Read AP (2005) Molekulare Humangenetik, 3. Aufl. Spektrum Akademischer Verlag, Heidelberg

Sud A, Kinnersley B, Houlston RS (2017) Genome-wide association studies of cancer: current insights and future perspectives. Nat Rev Cancer 17:692–704PubMed

Sun N, Liang J, Abil Z et al (2012) Optimized TAL effector nucleases (TALENs) for use in treatment of sickle cell disease. Mol BioSyst 8:1255–1263PubMed

Tan Q, Christiansen L, von Bornemann Hjelmborg J et al (2015) Twin methodology in epigenetic studies. J Exp Biol 218:134–139PubMed

Tartaglia NR, Howell S, Sutherland A et al (2010) A review of trisomy X (47,XXX). Orphanet J Rare Dis 5:8PubMedPubMedCentral

Tautz D (1989) Hypervariability of simple sequences as a general source for polymorphic DNA markers. Nucleic Acids Res 17:6463–6471PubMedPubMedCentral

Testa CM, Jankovic J (2018) Huntington disease: a quarter century of progress since the gene discovery. J Neurol Sci 396:52–68PubMed

Thomsen SF (2015) Genetics of asthma: an introduction for the clinician. Eur Clin Respir J. 2:24643

Tüttelmann F, Gromoll J (2010) Novel genetic aspects of Klinefelter’s syndrome. Mol Hum Reprod 16:386–395PubMed

Vec M (2001) Die Spur des Täters. Juridikum 2:89–94

Visscher PM, Brown MA, McCarthy MI et al (2012) Five years of GWAS discovery. Am J Hum Genet 90:7–24PubMedPubMedCentral

Vogel F, Motulsky AG (1997) Human Genetics, 3. Aufl. Springer, Berlin

Wallace DC (2005) The mitochondrial genome in human adaptive radiation and disease: on the road to therapeutics and performance enhancement. Gene 354:169–180PubMed

Wang W (2007) Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins. Nat Rev Genet 8:735–748PubMed

Wijshake T, Baker DJ, van de Sluis B (2014) Endonucleases: new tools to edit the mouse genome. Biochim Biophys Acta 1842:1942–1950PubMed

Williams TN, Thein SL (2018) Sickle cell anemia and its phenotypes. Annu Rev Genomics Hum Genet 19:113–147PubMed

Wills-Karp M, Ewart SL (2004) Time to draw breath: asthma-susceptibility genes are identified. Nat Rev Genet 5:376–387PubMed

Wong FC, Lo YM (2016) Prenatal diagnosis innovation: genome sequencing of maternal plasma. Annu Rev Med 67:419–432PubMed

Zeyer KA, Reinhardt DP (2015) Fibrillin-containing microfibrils are key signal relay stations for cell function. J Cell Commun Signal 9:309–325PubMedPubMedCentral

Zhang J, Liu H, Luo S et al (2017) Live birth derived from oocyte spindle transfer to prevent mitochondrial disease. Reprod Biomed Online 34:361–368PubMed

Titel: Genetik menschlicher Erkrankungen
verfasst von: Jochen Graw
Verlag: Springer Berlin Heidelberg
Buch: Genetik
Print ISBN: 978-3-662-60908-8

Electronic ISBN: 978-3-662-60909-5

Copyright-Jahr: 2020
DOI: https://doi.org/10.1007/978-3-662-60909-5_13

Premium Partner

Marktübersichten

Die im Laufe eines Jahres in der „adhäsion“ veröffentlichten Marktübersichten helfen Anwendern verschiedenster Branchen, sich einen gezielten Überblick über Lieferantenangebote zu verschaffen.

Zur Marktübersicht