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Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa

PURPOSE: This study reports the ophthalmic and genetic findings of a Cameroonian patient with autosomal recessive retinitis pigmentosa (arRP) caused by a novel Receptor Expression Enhancing Protein 6 (REEP6) homozygous mutation. PATIENT AND METHODS: A 33-year-old man underwent comprehensive ophthalm...

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Detalhes bibliográficos
Publicado no:Doc Ophthalmol
Main Authors: Lin, Yuchen, Xu, Christine L., Velez, Gabriel, Yang, Jing, Tanaka, Akemi J., Breazzano, Mark P., Mahajan, Vinit B., Sparrow, Janet R., Tsang, Stephen H.
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7310602/
https://ncbi.nlm.nih.gov/pubmed/31538292
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10633-019-09719-1
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