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.
| Predicate | Object |
|---|---|
| rdf:type | |
| rdfs:comment |
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.
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| skos:exactMatch | |
| uniprot:name |
Hum. Genet.
|
| uniprot:author |
Chisholm M.,
Cooper D.N.,
Grundy C.B.,
Kakkar V.V.
|
| uniprot:date |
1992
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| uniprot:pages |
683-684
|
| uniprot:title |
A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis.
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| uniprot:volume |
89
|