Autosomal Recessive Retinitis Pigmentosa Associated with Three Novel REEP6 Variants in Chinese Population

Retinitis pigmentosa 77 is caused by mutations of REEP6 (MIM: 609346), which encodes a protein for the development of photoreceptors. Our study was to identify disease-causing variants in three Chinese families using targeted next-generation sequencing (NGS). Multiple lines of computational predicti...

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Detalles Bibliográficos
Autores principales: Zhang, Lujia, Li, Ya, Qin, Litao, Wu, Yu, Lei, Bo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8068040/
https://www.ncbi.nlm.nih.gov/pubmed/33917198
http://dx.doi.org/10.3390/genes12040537

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8068040/
https://www.ncbi.nlm.nih.gov/pubmed/33917198
http://dx.doi.org/10.3390/genes12040537

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