Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population

BACKGROUND: Usher syndrome type 1 (USH1) is the leading cause of deafblindness. In most populations, many private mutations are distributed across the five known USH1 genes. We investigated patients from the French Canadian population of Quebec (approximately 6 million people) that descends from abo...

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Detalhes bibliográficos
Main Authors: Ebermann, Inga, Lopez, Irma, Bitner-Glindzicz, Maria, Brown, Carolyn, Karel Koenekoop, Robert, Jörn Bolz, Hanno
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2007
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1895989/
https://ncbi.nlm.nih.gov/pubmed/17407589
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/gb-2007-8-4-r47
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