Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy

PURPOSE: To report the clinical features and identification of two novel mutations in two Chinese pedigrees with autosomal dominant optic atrophy (ADOA). METHODS: Two families (F1 and F2) including ten affected members and nine unaffected family individuals were examined clinically. After informed c...

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Detalles Bibliográficos
Autores principales: Li, Yang, Deng, Ting, Tong, Yi, Peng, Shuling, Dong, Bing, He, Dacheng
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2008
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2610289/
https://www.ncbi.nlm.nih.gov/pubmed/19112530

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2610289/
https://www.ncbi.nlm.nih.gov/pubmed/19112530

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