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

Paul Winter

Research output: Contribution to journalArticle

9 Citations (Scopus)

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.
Original languageEnglish
Pages (from-to)1-2
Number of pages2
JournalHaemophilia
Volume1
Issue number2
DOIs
Publication statusPublished - Dec 2007

ASJC Scopus subject areas

  • Hematology

Fingerprint Dive into the research topics of 'A recurrent F8 mutation in Irish haemophilia A patients: evidence for a founder effect.'. Together they form a unique fingerprint.

Cite this