Identification of eight novel coagulation factor XIII subunit A mutations: implied consequences for structure and function.

ABSTRACT:

Background

Severe hereditary coagulation factor XIII deficiency is a rare homozygous bleeding disorder affecting one person in every two million individuals. In contrast, heterozygous factor XIII deficiency is more common, but usually not associated with severe hemorrhage such as intracranial bleeding or hemarthrosis. In most cases, the disease is caused by F13A gene mutations. Causative mutations associated with the F13B gene are rarer.

Design and methods

We analyzed ten index patients and three relatives for factor XIII activity using a photometric assay and sequenced their F13A and F13B genes. Additionally, structural analysis of the wild-type protein structure from a previously reported X-ray crystallographic model identified potential structural and functional effects o

SUBMITTER: Ivaskevicius V 

PROVIDER: S-EPMC2878794 | biostudies-literature | 2010 Jun

REPOSITORIES: biostudies-literature