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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Detalles Bibliográficos
Autores principales: Gao, Xuhui, Liu, Tiecheng, Cheng, Xuan, Dai, Aiai, Liu, Wei, Li, Runpu, Zhang, Maonian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2020
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6896309/
https://www.ncbi.nlm.nih.gov/pubmed/31746431
http://dx.doi.org/10.3892/mmr.2019.10813

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6896309/
https://www.ncbi.nlm.nih.gov/pubmed/31746431
http://dx.doi.org/10.3892/mmr.2019.10813

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