A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome.

Zhang, Yue; Xu, Manhong; Zhang, Minglian; Yang, Guoxing; Li, Xiaorong

Zhang, Yue; Xu, Manhong; Zhang, Minglian; Yang, Guoxing; Li, Xiaorong.

Afiliação

Zhang Y; Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin Branch of National Clinical Research Center for Ocular Disease, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital, Tianjin 300384, China.
Xu M; Hebei Provincial Key Laboratory of Ophthalmology, Hebei Provincial Eye Institute, Hebei Provincial Eye Hospital, Xingtai, Hebei 054001, China.
Zhang M; Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin Branch of National Clinical Research Center for Ocular Disease, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital, Tianjin 300384, China.
Yang G; Hebei Provincial Key Laboratory of Ophthalmology, Hebei Provincial Eye Institute, Hebei Provincial Eye Hospital, Xingtai, Hebei 054001, China.
Li X; Hebei Provincial Key Laboratory of Ophthalmology, Hebei Provincial Eye Institute, Hebei Provincial Eye Hospital, Xingtai, Hebei 054001, China.

Biomed Res Int ; 2021: 4514967, 2021.

Article em En | MEDLINE | ID: mdl-34692830

Assuntos

Síndrome de Bardet-Biedl/genética; Proteínas do Citoesqueleto/genética; Mutação; Síndrome de Bardet-Biedl/patologia; China; Feminino; Predisposição Genética para Doença; Humanos; Masculino; Linhagem; Sequenciamento do Exoma

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Limite: Female / Humans / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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