Article
Severe congenital factor XIII deficiency caused by novel W187X and G273V mutations in the F13A gene; diagnosis and classification according to the ISTH/SSC guidelines.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 Mar 2014
Souri M, Biswas A, Misawa M, Omura H, Ichinose A
Abstract excerpt
Factor XIII (FXIII) consists of the A and B subunits (FXIII-A and FXIII-B) and stabilizes fibrin clots. Defects in either the FXIII-A or FXIII-B gene lead to congenital FXIII deficiency, which manifests a life-long haemorrhagic tendency. Thus, prophylactic FXIII replacement therapy is recommended. To establish a management plan for a 30-year-old male patient with 'indefinite' FXIII deficiency (<40% of the normal...
Topics
- Adult
- Amino Acid Sequence
- Amino Acid Substitution
- Codon
- Factor XIII
- Factor XIII Deficiency
- Heterozygote
- Humans
- Male
- Models, Molecular
- Molecular Sequence Data
- Mutation
- Pedigree