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Identification of a candidate missense mutation in a family with von Willebrand disease type IIC

✍ Scribed by Reinhard Schneppenheim; Kathy B. Thomas; Sonja Krey; Ulrich Budde; Ursula Jessat; Anton H. Sutor; Barbara Zieger


Book ID
104665687
Publisher
Springer
Year
1995
Tongue
English
Weight
833 KB
Volume
95
Category
Article
ISSN
0340-6717

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Identification of a new candidate mutati
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Type 2A is a qualitative variant of von Willebrand disease (vWD) characterized by a reduced platelet-dependent function, associated with an absence of large multimers. A G5135A transition, resulting in a glycine to arginine substitution at the codon 1629 of the von Willebrand factor, was identified