Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants

BACKGROUND: Autosomal-dominant optic atrophy (ADOA) is one of the most common types of inherited optic atrophy. We identify OPA1 pathogenic variants and assess the clinical features of a cohort of Chinese ADOA patients MATERIALS AND METHODS: Detailed clinical evaluations were performed and genomic D...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en:Ophthalmic Genet
Main Authors: Li, Huajin, Jones, Evan M., Li, Hui, Yang, Lizhu, Sun, Zixi, Yuan, Zhisheng, Chen, Rui, Dong, Fangtian, Sui, Ruifang
Formato: Artigo
Idioma:Inglês
Publicado: 2018
Assuntos:
Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6239416/
https://ncbi.nlm.nih.gov/pubmed/29952689
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/13816810.2018.1466337
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares