Missense mutations, three of them novel (Gly47-->Cys, Arg178-->Pro, Ala259-->Thr), were found in the protein C genes of four patients with inherited protein C deficiency associated with venous thrombosis. Comparison with the phenotypic effects of mutations in the analogous residues of factor IX and the use of a molecular model of protein C provided explanations as to how these lesions might alter either the structure, function or stability of the protein C molecules encoded.
| Predicate | Object |
|---|---|
| rdf:type | |
| rdfs:comment |
Missense mutations, three of them novel (Gly47-->Cys, Arg178-->Pro, Ala259-->Thr), were found in the protein C genes of four patients with inherited protein C deficiency associated with venous thrombosis. Comparison with the phenotypic effects of mutations in the analogous residues of factor IX and the use of a molecular model of protein C provided explanations as to how these lesions might alter either the structure, function or stability of the protein C molecules encoded.
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| skos:exactMatch | |
| uniprot:name |
Blood Coagul. Fibrinolysis
|
| uniprot:author |
Bevan D.,
Chisholm M.,
Chitolie A.,
Cooper D.N.,
Kakkar V.V.,
Millar D.S.,
Reynaud J.
|
| uniprot:date |
1995
|
| uniprot:pages |
138-140
|
| uniprot:title |
Three novel mutations in the protein C (PROC) gene causing venous thrombosis.
|
| uniprot:volume |
6
|