Article
A rare splicing mutation in the PROS1 gene of a Korean patient with type I hereditary protein S deficiency.
Annals of clinical and laboratory science - 1 Jan 2011
Choi Jonghyeon, Kim Hee-Jin, Chang Myung Hee, Choi Jong-Rak, Yoo Jong-Ha
Abstract excerpt
Hereditary protein S (PS) deficiency (Gene ID: 5627; MIM # 176880) is a notable risk factor for recurrent venous thrombosis, inherited as an autosomal-dominant trait, either homozygous or heterozygous. It may be caused by point mutations in the gene (PROS1) encoding PS, which contains 15 exons on the chromosome 3q11.2. Only a few point mutations associated with the PROS1 gene in patients with hereditary PS...
Topics
- Asian People
- Base Sequence
- Blood Proteins
- Female
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Pedigree
- Protein S
- Protein S Deficiency
- RNA Splicing
- Republic of Korea