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Leitfaden Der Humangenetik by J. M. Connor, A. Schwarzkopf, M. a. Ferguson-Smith

Leitfaden Der Humangenetik

by J. M. Connor , A. Schwarzkopf , M. a. Ferguson-Smith
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Book cover type: Paperback
  • ISBN13: 9783642724022
  • Binding: Paperback
  • Subject: N/A
  • Publisher: Steinkopff
  • Publisher Imprint: Steinkopff
  • Publication Date:
  • Pages: 331
  • Original Price: EUR 74.76
  • Language: German
  • Edition: Softcover Repri
  • Item Weight: 554 grams
  • BISAC Subject(s): Life Sciences / Genetics & Genomics

Das in letzter Zeit rapide gewachsene Wissen urn genetische Ursachen von Gesundheit und Krankheit blieb nicht ohne Auswirkungen auf Wissenschaft und Klinik (Tabelle 1.2). Das Studium seltener genetischer St6rungen fiihrte zu besserem Verstandnis der normalen Physiologie: Ein GroBteil unserer heutigen Kenntnis von Stoffwechselwegen beruht auf diesen Forschungen. Entsprechend ist zu vermuten, daB durch Untersuchungen von angeborenen MiBbil- dungen und gene tisch bedingtem Krebs unser Verstandnis fur Gewebeentwicklung und -differenzierung wachsen wird. Betroffenen Familien kann durch verbesserte genetische Beratung und zunehmende M6g1ichkeiten in Therapie und Pravention geholfen werden. Fur die Zukunft ist Fortschritt nicht nur hier, sondern auch bei pranatalem und prakonzeptionellem Screening und im Bereich der Pravention zu erwarten. Dies durfte zu einer Reduktion genetisch bedingter Erkrankungen fiihren, zum Nutzen der betroffenen Familien ebenso wie der Gesellschaft im ganzen. Weiterfiihrende Literatur Cori GT, Cori CF (1952) Glucose-6-phosphatase of liver in glycogen storage disease. J Bioi Chern 199:661-667 Donahue RP, Bias WB, Renwick JH, McKusick VA (1968) Probable assignment of the Duffy blood group locus to chromosome 1 in man. Proc Natl Acad Sci USA 6:949-955 Garrod AE (1902) The incidence of alkaptonuria: a study in chemical individuality. Lancat 2: 1616-1620 Ingram VM (1956) A specific chemical difference between the globins of normal human and sickle cell anaema haemoglobin. Nature 178:792-794 Lejeune J, Gautier M, Turpin R (1959) Etude des chromosomes somatiques de neuf infants mongoliens.

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