A novel alanine or threonine 789 to proline mutation causing type 2N von Willebrand's disease when inherited homozygously or heterozygously with arginine 854 to glutamine mutation.

Subjects

Subjects :

Asian People
Exons
Factor VIII analysis
Female
Genotype
Heterozygote
Homozygote
Humans
Male
Sequence Analysis, DNA
United Kingdom
von Willebrand Factor analysis
Amino Acids, Basic genetics
Amino Acids, Cyclic genetics
Mutation genetics
von Willebrand Disease, Type 2 genetics
von Willebrand Factor genetics

Details

Language :

English

ISSN :

1365-2516

Volume :

16

Issue :

6

Database :

MEDLINE

Journal :

Haemophilia : the official journal of the World Federation of Hemophilia

Publication Type :

Editorial & Opinion

Accession number :

20491956

Full Text :

https://doi.org/10.1111/j.1365-2516.2010.02271.x