A novel missense variant c.G644A (p.G215E) of the RPGR gene in a Chinese family causes X-linked retinitis pigmentosa

The mutations in patients with X-linked retinitis pigmentosa (xlRP) have not been well described in the Chinese population. In the present study, a five-generation Chinese retinitis pigmentosa (RP) family was recruited; targeted next-generation sequencing (TGS) was used to identify causative genes a...

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Detalles Bibliográficos
Autores principales: Fu, Jiewen, Cheng, Jingliang, Zhou, Qi, Wei, Chunli, Chen, Hanchun, Lv, Hongbin, Fu, Junjiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Portland Press Ltd. 2019
Materias:
Diagnostics & Biomarkers
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6822503/
https://www.ncbi.nlm.nih.gov/pubmed/31652454
http://dx.doi.org/10.1042/BSR20192235

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6822503/
https://www.ncbi.nlm.nih.gov/pubmed/31652454
http://dx.doi.org/10.1042/BSR20192235

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