Lack of sequence variations in the C4b-BP beta-chain in patients with type III protein S deficiency bearing the Ser 460 to Pro mutation: description of two new intragenic isomorphisms in the C4b-BP beta-chain gene (C4BPB).

Abstract excerpt

Type III protein S (PS) deficiency, characterized by low levels of free PS and normal total PS levels, is often associated with the Ser 460 to Pro substitution. However, some patients bearing this mutation have normal PS levels, suggesting that another gene defect may account for this phenotype....

Topics

• Adult
• Chromosomes, Human, Pair 1
• Complement C4b-Binding Protein
• Exons
• Female
• Gene Frequency
• Histocompatibility Antigens
• Humans
• Male
• Middle Aged
• Mutation
• Protein S Deficiency