Whole exome sequencing analysis identifies novel Stargardt disease-related gene mutations in Chinese Stargardt disease and retinitis pigmentosa patients.

Ng, Tsz Kin; Cao, Yingjie; Yuan, Xiang-Ling; Chen, Shaowan; Xu, Yanxuan; Chen, Shao-Lang; Zheng, Yuqian; Chen, Haoyu

Ng, Tsz Kin; Cao, Yingjie; Yuan, Xiang-Ling; Chen, Shaowan; Xu, Yanxuan; Chen, Shao-Lang; Zheng, Yuqian; Chen, Haoyu.

Afiliação

Ng TK; Joint Shantou International Eye Center of Shantou University and The Chinese University of Hong Kong, Shantou, Guangdong, China.
Cao Y; Shantou University Medical College, Shantou, Guangdong, China.
Yuan XL; Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.
Chen S; Joint Shantou International Eye Center of Shantou University and The Chinese University of Hong Kong, Shantou, Guangdong, China.
Xu Y; Joint Shantou International Eye Center of Shantou University and The Chinese University of Hong Kong, Shantou, Guangdong, China.
Chen SL; Shantou University Medical College, Shantou, Guangdong, China.
Zheng Y; Joint Shantou International Eye Center of Shantou University and The Chinese University of Hong Kong, Shantou, Guangdong, China.
Chen H; Joint Shantou International Eye Center of Shantou University and The Chinese University of Hong Kong, Shantou, Guangdong, China.

Eye (Lond) ; 36(4): 749-759, 2022 04.

Article em En | MEDLINE | ID: mdl-33846575

Assuntos

Exoma; Retinose Pigmentar; Transportadores de Cassetes de Ligação de ATP/genética; China; Análise Mutacional de DNA; Exoma/genética; Humanos; Mutação; Linhagem; Retinose Pigmentar/diagnóstico; Retinose Pigmentar/genética; Doença de Stargardt/diagnóstico; Doença de Stargardt/genética; Sequenciamento do Exoma

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Exoma Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans País/Região como assunto: Asia Idioma: En Revista: Eye (Lond) Assunto da revista: OFTALMOLOGIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: China

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