A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis.
A novel homozygous CCC----CTC (Pro 247----Leu) substitution was detected in the protein C genes of a patient, born to consanguineous parents, with inherited type 1 protein C deficiency and recurrent venous thrombosis. Since one of four heterozygous relatives was also clinically affected, the condition appears to be inherited as an incompletely recessive trait in this family.
Grundy
C B
CB
Charter Molecular Genetics Laboratory, Thrombosis Research Institute, Chelsea, London, UK.
Chisholm
M
M
Kakkar
V V
VV
Cooper
D N
DN
D001483:Base Sequence; D005091:Exons / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011486:Protein C / Q000235:genetics*; D012008:Recurrence; D013924:Thrombophlebitis / Q000235:genetics*
D011486:Protein C