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A new candidate mutation (N528S) within the von Willebrand factor propeptide identified in a Japanese patient with phenotype IIC of von Willebrand disease

✍ Scribed by C. Gaucher; H. Uno; T. Yamazaki; H. Mashiba; C. Mazurier


Book ID
114792429
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
353 KB
Volume
61
Category
Article
ISSN
0902-4441

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Identification of a new candidate mutati
✍ CasaοΏ½a, Pilar; MartοΏ½nez, Francisco; Haya, Saturnino; Aznar, JosοΏ½ A. πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 88 KB πŸ‘ 1 views

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