Carregant...

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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Ebermann, Inga, Lopez, Irma, Bitner-Glindzicz, Maria, Brown, Carolyn, Karel Koenekoop, Robert, Jörn Bolz, Hanno
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2007
Matèries:
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!