TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy

PURPOSE: Nonsyndromic autosomal recessive optic atrophy (arOA) is extremely rare and its existence was disputed until a locus, optic atrophy 6 (OPA6), was mapped to 8q. Recently, a second locus, OPA7, was found on 11q in several families from North Africa, with one presumably ancestral mutation of t...

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Autores principales: Désir, Julie, Coppieters, Frauke, Van Regemorter, Nicole, De Baere, Elfride, Abramowicz, Marc, Cordonnier, Monique
Formato: Artigo
Lenguaje:Inglês
Publicado: Molecular Vision 2012
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3398502/
https://ncbi.nlm.nih.gov/pubmed/22815638
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