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A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis

✍ Scribed by Catherine B. Grundy; Morag Chisholm; Vijay V. Kakkar; David N. Cooper

Publisher: Springer
Year: 1992
Tongue: English
Weight: 199 KB
Volume: 89
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00221963

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✦ Synopsis

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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