Article
Factor XIII deficiency causing mutation, Ser295Arg, in exon 7 of the factor XIIIA gene.
Thrombosis and haemostasis - 1 Oct 2000
Anwar R, Gallivan L, Miloszewski K J, Markham A F
Abstract excerpt
Inherited factor XIII (FXIII) deficiency is an autosomal recessive disorder which results in a serious bleeding diathesis, problems with wound healing and a very high risk of recurrent miscarriage in deficient females. We have analysed the molecular basis of factor XIII deficiency in two patients and their parents, who originate from the North of Pakistan. Four sequence changes were identified: an AGC-->AGG...
Topics
- Child
- Exons
- Factor XIII Deficiency
- Female
- Humans
- Male
- Mutation
- Polymerase Chain Reaction
- Transglutaminases