Published January 1, 2017
| Version v1
Journal article
Open
Functional characterisation of the type 1 von Willebrand disease candidate VWF gene variants: p. M771I, p. L881R and p. P1413L
Creators
- 1. Istanbul Arel Univ, Dept Mol Biol & Genet, TR-34357 Istanbul, Turkey
- 2. Queens Univ, Dept Pathol & Mol Med, Kingston, ON, Canada
- 3. Istanbul Univ, Cerrahpasa Med Fac, Dept Internal Med, Istanbul, Turkey
- 4. Bogazici Univ, Dept Mol Biol & Genet, Istanbul, Turkey
Description
Background. Abnormalities in the biosynthetic pathway or increased clearance of plasma von Willebrand factor (VWF) are likely to contribute to decreased plasma VWF levels in inherited type 1 von Willebrand disease (VWD). Recent studies demonstrated that 65% of type 1 VWD patients have candidate VWF mutations, the majority of which are missense variants. The purpose of this study was to explore the effects of three VWF missense mutations (p. M771I, p. L881R and p. P1413L) located in different functional domains of VWF, reported as candidate mutations in type 1 VWD patients in the course of the MCMDM-1VWD study.
Files
bib-02f4f0b4-4f2c-4f9c-9d3a-0f5e2d009799.txt
Files
(245 Bytes)
| Name | Size | Download all |
|---|---|---|
|
md5:da57ee9bab33fb4a2cc7d570130d36cf
|
245 Bytes | Preview Download |