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Hamostaseologie 1989; 09(03): 122-129
DOI: 10.1055/s-0038-1655261
DOI: 10.1055/s-0038-1655261
Originalarbeiten
Molekularbiologie des von-Willebrand-Faktors
Weitere Informationen
Publikationsverlauf
Publikationsdatum:
25. Juni 2018 (online)
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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