Genotype–Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature Review

PURPOSE: RPGR is the most common cause of X-linked retinitis pigmentosa (RP), of which female carriers are also frequently affected. The aim of the current study was to explore the RPGR variation spectrum and associated phenotype based on the data from our lab and previous studies. METHODS: Variants...

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Detalles Bibliográficos
Autores principales: Yang, Junxing, Zhou, Lin, Ouyang, Jiamin, Xiao, Xueshan, Sun, Wenmin, Li, Shiqiang, Zhang, Qingjiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8565807/
https://www.ncbi.nlm.nih.gov/pubmed/34745198
http://dx.doi.org/10.3389/fgene.2021.600210

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8565807/
https://www.ncbi.nlm.nih.gov/pubmed/34745198
http://dx.doi.org/10.3389/fgene.2021.600210

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