Article
Genetic and phenotypic analysis of a large (122-member) protein S-deficient kindred provides an explanation for the familial coexistence of type I and type III plasma phenotypes.
Blood - 15 Jun 1997
Simmonds R E, Zöller B, Ireland H, Thompson E, de Frutos P G, Dahlbäck B, Lane D A
Abstract excerpt
Protein S deficiency is a known risk factor for thrombosis. The coexistence of phenotypic type I (reduction in total and free antigen) and type III (reduction in free antigen only) protein S deficiencies in 14 of 18 families was recently reported. We investigated the cause of this phenotypic vari...
Topics
- Adolescent
- Adult
- Aged
- Aging
- Complement Inactivator Proteins
- Disease Susceptibility
- Female
- Genotype
- Glycoproteins
- Humans
- Male
- Middle Aged
- Pedigree
- Phenotype
- Point Mutation
- Protein S
- Protein S Deficiency
- Receptors, Complement