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 conditi
β¦ LIBER β¦
Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis
β Scribed by Catherine B. Grundy; Sam Schulman; Lillian Tengborn; Vijay V. Kakkar; David N. Cooper
- Publisher
- Springer
- Year
- 1992
- Tongue
- English
- Weight
- 390 KB
- Volume
- 89
- Category
- Article
- ISSN
- 0340-6717
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β¦ Synopsis
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.
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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.