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A novel nonsense mutation in the protein C (PROC) gene (Trp-29→Term) causing recurrent venous thrombosis

✍ Scribed by D. S. Millar; C. B. Grundy; P. Bignell; D. C. Mitchell; D. Corden; P. Woods; V. V. Kakkar; D. N. Cooper

Publisher
Springer
Year
1993
Tongue
English
Weight
136 KB
Volume
91
Category
Article
ISSN
0340-6717

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✦ Synopsis

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.

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