Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene

Mutations in the four-and-a-half LIM domain 1 (FHL1) gene, which encodes a 280-amino-acid protein containing four LIM domains and a single zinc-finger domain in the N-terminal region, have been associated with a broad clinical spectrum of X-linked muscle diseases encompassing a variety of different...

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Main Authors: Sarkozy, Anna, Windpassinger, Christian, Hudson, Judith, Dougan, Charlotte F, Lecky, Bryan, Hilton-Jones, David, Eagle, Michelle, Charlton, Richard, Barresi, Rita, Lochmüller, Hanns, Bushby, Kate, Straub, Volker
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3190262/
https://ncbi.nlm.nih.gov/pubmed/21629301
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.84
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