Article
Identification of eight novel coagulation factor XIII subunit A mutations: implied consequences for structure and function.
Haematologica - 1 Jun 2010
Ivaskevicius Vytautas, Biswas Arijit, Bevans Carville, Schroeder Verena, Kohler Hans Peter, Rott Hannelore, Halimeh Susan, Petrides Petro E, Lenk Harald, Krause Manuele, Miterski Bruno, Harbrecht Ursula, Oldenburg Johannes
Abstract excerpt
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...
Topics
- Adult
- Aged
- Amino Acid Sequence
- Child
- Child, Preschool
- Codon, Nonsense
- Crystallography, X-Ray
- Factor XIII Deficiency
- Factor XIIIa
- Female