Article
Characterisation of six novel A-subunit mutations leading to congenital factor XIII deficiency and molecular analysis of the first diagnosed patient with this rare bleeding disorder.
Thrombosis and haemostasis - 1 Jan 2006
Schroeder Verena, Meili Esther, Cung Trinh, Schmutz Peter, Kohler Hans P
Abstract excerpt
In 1960, the first case report on factor XIII deficiency was published describing a seven-year-old Swiss boy with a so far unknown bleeding disorder. Today, more than 60 mutations in the factor XIIIA- and B-subunit genes are known leading to congenital factor XIII deficiency. In the present study, we describe six novel mutations in the factor XIII A-subunit gene. Additionally, we present the molecular...
Topics
- Adolescent
- Adult
- Amino Acid Sequence
- Base Sequence
- Child
- Child, Preschool
- Factor VIII
- Factor XIII Deficiency
- Female
- Humans
- Infant, Newborn
- Male
- Molecular Sequence Data
- Mutation
- Protein Conformation
- Switzerland