Whole-exome sequencing identified genes known to be responsible for retinitis pigmentosa in 28 Chinese families.

Shen, Chang; You, Bing; Chen, Yu-Ning; Li, Yang; Li, Wei; Wei, Wen-Bin

Shen, Chang; You, Bing; Chen, Yu-Ning; Li, Yang; Li, Wei; Wei, Wen-Bin.

Afiliação

Shen C; Department of Ophthalmology, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang 310003, China; Clinical Research Center, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
You B; Tongren Eye Center, Beijing key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Ophthalmology&Visual Sciences Key Lab, Medical Artificial Intelligence Research and Verification Key Laboratory of the Ministry of Industry and Information Technology, Beijing Tongren Hospital, Capit
Chen YN; Tongren Eye Center, Beijing key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Ophthalmology&Visual Sciences Key Lab, Medical Artificial Intelligence Research and Verification Key Laboratory of the Ministry of Industry and Information Technology, Beijing Tongren Hospital, Capit
Li Y; Tongren Eye Center, Beijing key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Ophthalmology&Visual Sciences Key Lab, Medical Artificial Intelligence Research and Verification Key Laboratory of the Ministry of Industry and Information Technology, Beijing Tongren Hospital, Capit
Li W; Tongren Eye Center, Beijing key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Ophthalmology&Visual Sciences Key Lab, Medical Artificial Intelligence Research and Verification Key Laboratory of the Ministry of Industry and Information Technology, Beijing Tongren Hospital, Capit
Wei WB; State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, China; University of Chinese Academy of Sciences, Beijing, China.

Mol Vis ; 28: 96-113, 2022.

Article em En | MEDLINE | ID: mdl-35814500

Assuntos

Retinose Pigmentar; Canais de Cátion Regulados por Nucleotídeos Cíclicos/genética; Análise Mutacional de DNA/métodos; Proteínas do Olho/genética; Humanos; Mutação; Linhagem; Retinose Pigmentar/diagnóstico; Síndromes de Usher; Sequenciamento do Exoma

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retinose Pigmentar Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo

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PubMed Links

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retinose Pigmentar Idioma: En Ano de publicação: 2022 Tipo de documento: Article