Article
Molecular and cellular basis of deficiency of the b subunit for factor XIII secondary to a Cys430-Phe mutation in the seventh Sushi domain.
The Journal of clinical investigation - 1 Mar 1995
Hashiguchi T, Ichinose A
Abstract excerpt
We studied the defect responsible for deficiency of the b subunit for factor XIII in the first known case of this condition. The patient is a compound heterozygote of two genetic defects: deletion of A-4161 at the acceptor splice junction of intron A, resulting in a loss of the obligatory AG spli...
Topics
- Animals
- Base Sequence
- Biological Transport
- Cell Compartmentation
- Cells, Cultured
- Cricetinae
- Cysteine
- Factor VIII
- Genetic Vectors
- Hemophilia A
- Heterozygote
- Hexosaminidases
- Humans
- Immunoblotting
- Immunohistochemistry
- Molecular Sequence Data
- Mutation
- Protein Processing, Post-Translational