Novel mutations of RPGR in Chinese families with X-linked retinitis pigmentosa

BACKGROUND: RP (retinitis pigmentosa) is a group of hereditary retinal degenerative diseases. XLRP is a relatively severe subtype of RP. Thus, it is necessary to identify genes and mutations in patients who present with X-linked retinitis pigmentosa. METHODS: Genomic DNA was extracted from periphera...

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Publicado en:BMC Ophthalmol
Autores principales: Zhang, Zhimeng, Dai, Hehua, Wang, Lei, Tao, Tianchang, Xu, Jing, Sun, Xiaowei, Yang, Liping, Li, Genlin
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2019
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6882249/
https://ncbi.nlm.nih.gov/pubmed/31775781
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12886-019-1250-7
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