A novel mutation in the PRPH2 gene in a Chinese pedigree with retinitis pigmentosa and angle-closure glaucoma.

Li, Wei-Ning; Du, Xiu-Juan; Zhang, Yu-Ting; Wang, Le-Yi; Zhu, Jing

Li, Wei-Ning; Du, Xiu-Juan; Zhang, Yu-Ting; Wang, Le-Yi; Zhu, Jing.

Afiliação

Li WN; Department of Ophthalmology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, 107#, Wenhua Xi Road, Jinan, Shandong, 250012, People's Republic of China.
Du XJ; Affiliated Eye Hospital of Shandong University of TCM, Jinan, Shandong, 250002, People's Republic of China.
Zhang YT; Department of Ophthalmology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, 107#, Wenhua Xi Road, Jinan, Shandong, 250012, People's Republic of China.
Wang LY; Department of Ophthalmology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, 107#, Wenhua Xi Road, Jinan, Shandong, 250012, People's Republic of China.
Zhu J; Department of Ophthalmology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, 107#, Wenhua Xi Road, Jinan, Shandong, 250012, People's Republic of China. 123985117@qq.com.

BMC Ophthalmol ; 21(1): 302, 2021 Aug 16.

Article em En | MEDLINE | ID: mdl-34399712

Assuntos

Glaucoma de Ângulo Fechado; Retinose Pigmentar; Idoso; China; Glaucoma de Ângulo Fechado/genética; Humanos; Masculino; Mutação; Linhagem; Periferinas; Retinose Pigmentar/genética

Palavras-chave

Angle-closure glaucoma (ACG); Peripherin-2 (PRPH2); Retinitis pigmentosa (RP); Whole-exome sequencing (WES)

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Glaucoma de Ângulo Fechado / Retinose Pigmentar Limite: Aged / Humans / Male País/Região como assunto: Asia Idioma: En Revista: BMC Ophthalmol Assunto da revista: OFTALMOLOGIA Ano de publicação: 2021 Tipo de documento: Article

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