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Haemophilia
Article . 2007 . Peer-reviewed
License: Wiley Online Library User Agreement
Data sources: Crossref
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
Haemophilia
Article . 2008
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A recurrent F8 mutation in Irish haemophilia A patients: evidence for a founder effect

Authors: P C, Winter; H, Egan; O, McNulty; F G C, Jones; J, O'Donnell; P V, Jenkins;

A recurrent F8 mutation in Irish haemophilia A patients: evidence for a founder effect

Abstract

Haemophilia A is a mutationally heterogeneous disorder with approximately 1,000 unique mutations of the Factor VIII (F8) gene recorded to date [1]. With the exception of the intron 22 inversion mutation, which occurs in ~45% of individuals with clinically severe disease, recurrent mutations causing haemophilia A are rare. This reflects a high rate of spontaneous mutation within the F8 gene generally resulting in private mutations within individual kindreds. We have identified a recurrent F8 gene mutation in Irish haemophilia A patients and have used haplotype analysis to investigate its origins.

Keywords

Male, Factor VIII, Mutation, Missense, 610, Hemophilia A, Founder Effect, White People, name=Hematology, /dk/atira/pure/subjectarea/asjc/2700/2720, Haplotypes, 616, Humans, Ireland

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    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
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Powered by OpenAIRE graph
citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
11
Average
Top 10%
Average