Two novel (R(-11)C; T394D) and two repeat missense mutations in the protein C gene associated with venous thrombosis in six kindreds.
Ireland
H A
HA
Charing Cross and Westminster Medical School, London, UK.
Boisclair
M D
MD
Taylor
J
J
Thompson
E
E
Thein
S L
SL
Girolami
A
A
De Caterina
M
M
Scopacasa
F
F
De Stefano
V
V
Leone
G
G
Finazzi
G
G
Cohen
H
H
Lane
D A
DA
D000328:Adult; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D011486:Protein C / Q000032:analysis / Q000235:genetics*; D020151:Protein C Deficiency; D013924:Thrombophlebitis / Q000235:genetics*
D011486:Protein C