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High prevalence of a mutation in the factor V gene within the U.K. population: relationship to activated protein C resistance and familial thrombosis

✍ Scribed by Nicholas J. Beauchamp; Martina E. Daly; K. K. Hampton; Peter C. Cooper; F. Eric Preston; Ian R. Peake

Book ID
114713794
Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
277 KB
Volume
88
Category
Article
ISSN
0007-1048

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Detection of a common mutation in factor
Detection of a common mutation in factor V gene responsible for resistance to activated protein C causing predisposition to thrombosis
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Hereditary predisposition to thrombosis due to activated protein C resistance (APCR) has been attributed to a missense mutation in the factor V gene at nucleotide 1691 (G to A), causing replacement of arginine at codon 506 with glutamine. Using an RFLP-PCR assay to detect this mutation, we measured

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## Objective: To test a possible association between activated protein C resistance and intrauterine fetal death. Methods: The activated protein C anticoagulant activity and factor V R506Q mutation were assessed in 14 nonpregnant women with a history of intrauterine fetal death and 14 healthy cont