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Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis

✍ 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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✦ 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.


πŸ“œ SIMILAR VOLUMES


A novel homozygous missense mutation in
✍ Catherine B. Grundy; Morag Chisholm; Vijay V. Kakkar; David N. Cooper πŸ“‚ Article πŸ“… 1992 πŸ› Springer 🌐 English βš– 199 KB

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