Novel splice receptor-site mutation of RPGR in a Chinese family with X-linked retinitis pigmentosa

RATIONALE: Retinitis pigmentosa (RP) is a group of clinically and genetically heterogeneous diseases; X-linked retinitis pigmentosa (XLRP) is the most serious type. Mutations in RP GTPase regulator (RPGR) account for over 70% of patients with XLRP. PATIENT CONCERNS: We report a Chinese family with R...

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Detalles Bibliográficos
Autores principales: Wang, Jing, Zhou, Cong, Xiao, Yuanyuan, Liu, Hongqian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6203575/
https://www.ncbi.nlm.nih.gov/pubmed/30313097
http://dx.doi.org/10.1097/MD.0000000000012779

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6203575/
https://www.ncbi.nlm.nih.gov/pubmed/30313097
http://dx.doi.org/10.1097/MD.0000000000012779

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