Article
Identification of eight point mutations in protein S deficiency type I--analysis of 15 pedigrees.
Thrombosis and haemostasis - 1 May 1995
Gómez E, Poort S R, Bertina R M, Reitsma P H
Abstract excerpt
We described molecular genetic studies of 15 patients with protein S deficiency type I (i.e. reduced total protein S antigen). All the exons of the PROS 1 gene were analyzed both by PCR and direct sequencing in all 15 probands. This analysis led to the identification of point mutations affecting...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- Codon
- DNA Mutational Analysis
- Exons
- Female
- Genes
- Genetic Predisposition to Disease
- Genetic Testing
- Humans
- Male
- Mammals
- Molecular Sequence Data
- Pedigree
- Point Mutation
- Polymerase Chain Reaction
- Protein S