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. [electronic resource]
- Thrombosis and haemostasis Dec 1994
- 814-8 p. digital
Publication Type: Case Reports; Journal Article
0340-6245
Alleles Arginine--genetics Base Sequence Cysteine--genetics Glutamine--genetics Heterozygote Humans Molecular Sequence Data Mutation Protein C--genetics Protein C Deficiency Secretory Rate--genetics Transfection