Article
Compound heterozygous protein C deficiency caused by two mutations, Arg-178 to Gln and Cys-331 to Arg, leading to impaired secretion of mutant protein C.
Thrombosis and haemostasis - 1 Dec 1994
Sugahara Y, Miura O, Hirosawa S, Aoki N
Abstract excerpt
The protein C gene in a patient apparently homozygous for protein C deficiency was analyzed. Two different point mutations, each located in a different allele, were detected to reveal that the patient is a compound heterozygote. Mutation of Arg-178 (CGG) to Gln (CAG) [mutation I] was detected in exon VII, in the vicinity of activation peptide cleavage site by thrombin. Mutation of Cys-331 (TGC) to Arg (CGC)...
Topics
- Alleles
- Arginine
- Base Sequence
- Cysteine
- Glutamine
- Heterozygote
- Humans
- Molecular Sequence Data
- Mutation
- Protein C
- Protein C Deficiency
- Secretory Rate