Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis.
Non-identical missense mutations were identified at Arg 178 in the protein C genes of two patients with heterozygous type 1 protein C deficiency and recurrent venous thrombosis.
Grundy
C B
CB
Charter Molecular Genetics Laboratory, Thrombosis Research Institute, Chelsea, London, UK.
Schulman
S
S
Tengborn
L
L
Kakkar
V V
VV
Cooper
D N
DN
D001120:Arginine / Q000235:genetics*; D001483:Base Sequence; D005091:Exons / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011486:Protein C / Q000235:genetics*; D020151:Protein C Deficiency; D012008:Recurrence; D013924:Thrombophlebitis / Q000235:genetics*
D011486:Protein C; D001120:Arginine