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Hamostaseologie 1989; 09(03): 122-129
DOI: 10.1055/s-0038-1655261
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Schattauer GmbH

Molekularbiologie des von-Willebrand-Faktors

D. J. Mancuso
1   Howard Hughes Medical Institute; Department für Medizin und Department für Biochemie und molekulare Biophysik; Washington University Medical School, St. Louis (USA)
,
J. E. Sadler
1   Howard Hughes Medical Institute; Department für Medizin und Department für Biochemie und molekulare Biophysik; Washington University Medical School, St. Louis (USA)
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Publication History

Publication Date:
25 June 2018 (online)

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Zusammenfassung

Die letzten Jahre haben schnelle Fortschritte in unserem Verständnis der Molekularbiologie des von-Willebrand-Faktors (vWF) gebracht. Es wurde die komplette cDNA-Sequenz des vWF des Menschen bestimmt und die Intron/Exon-Organisation des vWF-Gens und ein Pseudogen charakterisiert. Die Strukturen dieser Gene haben interessante Folgerungen für ihre Evolution. Der aktive rekombinante vWF wurde in Zellkulturen exprimiert. Es wurden mehrere Restriktionsfragmentlangen Polymorphismen (RFLP) des vWF-Gens mitgeteilt und Gendeletionen charakterisiert, die eine schwere von-Willebrand-Erkrankung (vWD) verursachen. Neue Technologien für die Analyse von DNS-Sequenzen werden eine schnelle Aufklärung der molekularen Grundlagen der vWD-Varianten gestatten.

 

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