Analysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa

Mutations in RP2 and RPGR genes are responsible for the X-linked retinitis pigmentosa (XLRP). In this study, we analyzed the RP2 and RPGR gene mutations in five Han Chinese families with XLRP. An approximately 17Kb large deletion including the exon 4 and exon 5 of RP2 gene was found in an XLRP famil...

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Detalles Bibliográficos
Autores principales: Jiang, Jingjing, Wu, Xiaofei, Shen, Di, Dong, Lijin, Jiao, Xiaodong, Hejtmancik, J. Fielding, Li, Ningdong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5353642/
https://www.ncbi.nlm.nih.gov/pubmed/28294154
http://dx.doi.org/10.1038/srep44465

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