Ontology highlight
ABSTRACT:
SUBMITTER: Shahbazi S
PROVIDER: S-EPMC3316446 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
Shahbazi Shirin S Alavi Sara S Mahdian Reza R
International journal of molecular epidemiology and genetics 20120229 1
Defects in von Willebrand factor, a crucial protein in haemostasis, lead to the most common inherited coagulopathy in man, von Willebrand disease. To date, over 350 mutations and 170 single nucleotide polymorphisms of VWF gene have been reported. In the present study, the distribution of two linked VWF gene variants, rs1063856 and rs1063857 have been assessed. The proportional frequency of rs1063856 (2365A/G) and rs1063857 (2385T/C) in healthy individuals were 0.70/0.30. Frequency of polymorphis ...[more]