Identification of CRB1 mutations in two Chinese consanguineous families exhibiting autosomal recessive retinitis pigmentosa.

Guo, Xiaoxin; Li, Jie; Wang, Qingwei; Shu, Yi; Wang, Jin; Chen, Lijia; Zhang, Houbin; Shi, Yi; Yang, Jiyun; Lu, Fang; Jiang, Li; Qu, Chao; Gong, Bo

Guo, Xiaoxin; Li, Jie; Wang, Qingwei; Shu, Yi; Wang, Jin; Chen, Lijia; Zhang, Houbin; Shi, Yi; Yang, Jiyun; Lu, Fang; Jiang, Li; Qu, Chao; Gong, Bo.

Affiliation

Guo X; Key Laboratory for Human Disease Gene Study of Sichuan Province and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, P.R. China.
Li J; Department of Ophthalmology, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, P.R. China.
Wang Q; Key Laboratory for Human Disease Gene Study of Sichuan Province and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, P.R. China.
Shu Y; Key Laboratory for Human Disease Gene Study of Sichuan Province and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, P.R. China.
Wang J; Key Laboratory for Human Disease Gene Study of Sichuan Province and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, P.R. China.
Chen L; Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, SAR, P.R. China.
Zhang H; Key Laboratory for Human Disease Gene Study of Sichuan Province and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, P.R. China.
Shi Y; Key Laboratory for Human Disease Gene Study of Sichuan Province and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, P.R. China.
Yang J; Key Laboratory for Human Disease Gene Study of Sichuan Province and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, P.R. China.
Lu F; Key Laboratory for Human Disease Gene Study of Sichuan Province and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, P.R. China.
Jiang L; Key Laboratory for Human Disease Gene Study of Sichuan Province and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, P.R. China.
Qu C; Department of Ophthalmology, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, P.R. China.
Gong B; Key Laboratory for Human Disease Gene Study of Sichuan Province and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, P.R. China.

Mol Med Rep ; 20(3): 2922-2928, 2019 Sep.

Article de En | MEDLINE | ID: mdl-31322236

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Rétinite pigmentaire / Mutation faux-sens / Protéines de l'oeil / Protéines membranaires / Protéines de tissu nerveux Type d'étude: Diagnostic_studies Limites: Adolescent / Adult / Aged / Aged80 / Child / Female / Humans / Male / Middle aged Langue: En Journal: Mol Med Rep Année: 2019 Type de document: Article Pays de publication: Grèce

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