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C1272F: a novel type 2A von Willebrand’s disease mutation in A1 domain; its clinical significance

✍ Scribed by A. I. WOODS; A. SANCHEZ-LUCEROS; A. C. KEMPFER; Y. POWAZNIAK; J. C. CALDERAZZO PEREYRA; A. N. BLANCO; S. S. MESCHENGIESER; M. A. LAZZARI


Book ID
108775794
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
101 KB
Volume
18
Category
Article
ISSN
1351-8216

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C1272S: A new candidate mutation in type
✍ Norma Penas; Almudena Pérez; Rosario González-Boullosa; Javier Batlle 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 123 KB 👁 1 views

## Abstract Most of type 2A von Willebrand disease (VWD) mutations are clustered within the A2 domain of VWF, encoded by the 3′ region of exon 28 of the von Willebrand factor (VWF) gene. A patient with lifelong and severe bleeding diathesis and laboratory data of type 2A VWD is described. The analy