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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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| Publicado no: | Doc Ophthalmol |
|---|---|
| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2019
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| Assuntos: | |
| 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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