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Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada.

Authors
  • Haywood, Annika F M
  • Merner, Nancy D
  • Hodgkinson, Kathy A
  • Houston, Jim
  • Syrris, Petros
  • Booth, Valerie
  • Connors, Sean
  • Pantazis, Antonios
  • Quarta, Giovanni
  • Elliott, Perry
  • McKenna, William
  • Young, Terry-Lynn
Type
Published Article
Journal
European Heart Journal
Publisher
Oxford University Press
Publication Date
Apr 01, 2013
Volume
34
Issue
13
Pages
1002–1011
Identifiers
DOI: 10.1093/eurheartj/ehs383
PMID: 23161701
Source
Medline
License
Unknown

Abstract

Although the p.R312W variant was found in controls (3/378), identification of an ancestral disease p R312W haplotype suggests that the p.R312W variant is a pathogenic founder mutation.

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