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Protein C deficiency and thromboembolism: recurrent mutation at Arg 306 in the protein C gene

✍ Scribed by C. B. Grundy; S. Schulman; M. Krawczak; J. Kobosko; V. V. Kakkar; D. N. Cooper

Book ID: 104669250
Publisher: Springer
Year: 1992
Tongue: English
Weight: 468 KB
Volume: 88
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00219350

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✦ Synopsis

A CGA----TGA transition in the protein C gene, resulting in an Arg306----Term substitution, was detected in a Swedish kindred with thrombotic disease whose members exhibit plasma protein C activity/antigen levels consistent with type I protein C deficiency. Although an identical lesion has been reported previously in several Dutch families, RFLP typing indicated that the Dutch and Swedish mutations were unlikely to be identical by descent and probably arose by recurrent mutation.

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