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A novel GPR143 mutation in a Chinese family with X-linked ocular albinism type 1

Ocular albinism type 1 (OA1) is a genetic disorder characterized by reduced eye pigmentation and nystagmus, which is often accompanied by decreased visual acuity, strabismus and other symptoms, whereas skin and hair color remain normal. The present study aimed to assess the clinical features and per...

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Detalhes bibliográficos
Publicado no:Mol Med Rep
Main Authors: Gao, Xuhui, Liu, Tiecheng, Cheng, Xuan, Dai, Aiai, Liu, Wei, Li, Runpu, Zhang, Maonian
Formato: Artigo
Idioma:Inglês
Publicado em: D.A. Spandidos 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6896309/
https://ncbi.nlm.nih.gov/pubmed/31746431
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2019.10813
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