Population differences in the frequency of the factor V Leiden variant among people with clinically symptomatic protein C deficiency

Hallam, P. J., Millar, D. S., Krawczak, M, Kakkar, W and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 1995. Population differences in the frequency of the factor V Leiden variant among people with clinically symptomatic protein C deficiency. Journal of Medical Genetics 32 (7) , pp. 543-545. 10.1136/jmg.32.7.543

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Abstract

The factor V Leiden variant, responsible for the phenomenon of activated protein C resistance, was found to be less frequent among British (0.06) and Swedish/Danish (0.15) protein C deficiency patients than previously reported in a Dutch study (0.19). In the Swedish population, a significantly increased frequency of the factor V Leiden allele was apparent in protein C deficiency patients as compared to healthy controls. However, this was not found in the British population. Coinheritance of the factor V Leiden variant is therefore unlikely to be the sole determinant of whether a person with protein C deficiency will come to clinical attention. Nevertheless, when patient data were analysed by type of protein C deficiency, it was noted that the frequency of the factor V Leiden variant was 2.8-fold higher in type II patients compared to type I patients. A possible explanation of this disparity is discussed

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Schools > Medicine
Subjects:	R Medicine > R Medicine (General) R Medicine > RZ Other systems of medicine
Publisher:	BMJ Journals
ISSN:	0022-2593
Last Modified:	27 Oct 2022 08:15
URI:	https://orca.cardiff.ac.uk/id/eprint/61703

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