A novel nonsense mutation in the protein C (PROC) gene (Trp-29-->term) causing recurrent venous thrombosis.
A novel heterozygous TGG-->TAG (Trp-29-->Term) substitution was detected in three members of a family with inherited type 1 protein C deficiency and recurrent venous thrombosis.
Millar
D S
DS
Charter Molecular Genetics Laboratory, Thrombosis Research Institute, Chelsea, London, UK.
Grundy
C B
CB
Bignell
P
P
Mitchell
D C
DC
Corden
D
D
Woods
P
P
Kakkar
V V
VV
Cooper
D N
DN
D000328:Adult; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D011486:Protein C / Q000235:genetics*; D020151:Protein C Deficiency; D012008:Recurrence; D013924:Thrombophlebitis / Q000235:genetics*
D011486:Protein C