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Analysis of RPGR gene mutations in 41 Chinese families affected by X-linked inherited retinal dystrophy

Background: This study analyzed the phenotypes and genotypes of 41 Chinese families with inherited retinal dystrophy (IRD) and RPGR gene mutations. Methods: This retrospective analysis evaluated a cohort of 41 patients who were subjected to a specific Hereditary Eye Disease Enrichment Panel (HEDEP)...

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Detalles Bibliográficos
Autores principales:	Liu, Xiaozhen, Jia, Ruixuan, Meng, Xiang, Wang, Likun, Yang, Liping
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9582779/ https://www.ncbi.nlm.nih.gov/pubmed/36276946 http://dx.doi.org/10.3389/fgene.2022.999695

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