Загрузка...

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...

Полное описание

Сохранить в:
Библиографические подробности
Главные авторы: Désir, Julie, Coppieters, Frauke, Van Regemorter, Nicole, De Baere, Elfride, Abramowicz, Marc, Cordonnier, Monique
Формат: Artigo
Язык:Inglês
Опубликовано: Molecular Vision 2012
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3398502/
https://ncbi.nlm.nih.gov/pubmed/22815638
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!