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Whole-exome sequencing identified genes known to be responsible for retinitis pigmentosa in 28 Chinese families

PURPOSE: Retinitis pigmentosa (RP) is a group of highly heterogenetic inherited retinal degeneration diseases. Molecular genetic diagnosis of RP is quite challenging because of the complicated disease-causing mutation spectrum. The aim of this study was to explore the mutation spectrum in Chinese RP...

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Detalles Bibliográficos
Autores principales:	Shen, Chang, You, Bing, Chen, Yu-Ning, Li, Yang, Li, Wei, Wei, Wen-Bin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Molecular Vision 2022
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9239900/ https://www.ncbi.nlm.nih.gov/pubmed/35814500

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