Article
Genetic and phenotypic variability between families with hereditary protein S deficiency.
Thrombosis and haemostasis - 1 Feb 2002
Rezende Suely M, Lane David A, Zöller Bengt, Mille-Baker Blandine, Laffan Mike, Dahlbäck Björn, Simmonds Rachel E
Abstract excerpt
While many mutations thought to result in protein S (PS) deficiency are known, there have been few attempts to relate genotype expression with plasma phenotype. We have investigated the nature and consequence of PS gene (PROS1) mutations in 17 PS-deficient families who presented with mixed type I and type III phenotypes. Seven different mutations were found in nine families: delG-34 (STOP codon at -24),...
Topics
- Amino Acid Substitution
- Animals
- Brazil
- COS Cells
- Chlorocebus aethiops
- Codon, Nonsense
- DNA Mutational Analysis
- Genetic Heterogeneity
- Genotype
- Humans
- Mutation
- Mutation, Missense
- Phenotype
- Point Mutation
- Protein S
- Protein S Deficiency
- Risk
- Transfection