Article
Co-segregation of the PROS1 locus and protein S deficiency in families having no detectable mutations in PROS1.
Journal of thrombosis and haemostasis : JTH - 1 Nov 2004
Lanke E, Johansson A M, Hillarp A, Lethagen S, Zöller B, Dahlbäck B, Halldén C
Abstract excerpt
Inherited deficiency of protein S constitutes an important risk factor of venous thrombosis. Many reports have demonstrated that causative mutations in the protein S gene are found only in approximately 50% of the cases with protein S deficiency. It is uncertain whether the protein S gene is causative in all cases of protein S deficiency or if other genes are involved in cases where no mutation is identified. The...
Topics
- DNA Mutational Analysis
- Family Health
- Female
- Haplotypes
- Humans
- Inheritance Patterns
- Lod Score
- Male
- Microsatellite Repeats
- Mutation
- Pedigree
- Protein S
- Protein S Deficiency
