Novel mutations in HSF4 cause congenital cataracts in Chinese families.

Cao, Zongfu; Zhu, Yihua; Liu, Lijuan; Wu, Shuangqing; Liu, Bing; Zhuang, Jianfu; Tong, Yi; Chen, Xiaole; Xie, Yongqing; Nie, Kaimei; Lu, Cailing; Ma, Xu; Yang, Juhua

Cao, Zongfu; Zhu, Yihua; Liu, Lijuan; Wu, Shuangqing; Liu, Bing; Zhuang, Jianfu; Tong, Yi; Chen, Xiaole; Xie, Yongqing; Nie, Kaimei; Lu, Cailing; Ma, Xu; Yang, Juhua.

Afiliação

Cao Z; Graduate School of Peking Union Medical College, Beijing, China.
Zhu Y; National Center for Human Genetics, Beijing, China.
Liu L; National Human Genetic Resources Center, National Research Institute for Family Planning, Peking Union Medical College, 12 Da-hui-si, Hai Dian, Beijing, 100081, China.
Wu S; Department of Ophthalmology, the First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian, China.
Liu B; Fuzhou Southeast Eye Hospital, Fuzhou, Fujian, China.
Zhuang J; Department of Ophthalmology, Hangzhou Red-cross hospital, Zhejiang, Hangzhou, China.
Tong Y; Department of Ophthalmology, the First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian, China.
Chen X; Xiamen Eye Center of Xiamen University, Xiamen, Fujian, China.
Xie Y; Department of Ophthalmology, the First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian, China.
Nie K; Biomedical Engineering Center, Fujian Medical University, Fuzhou, Fujian, China.
Lu C; Biomedical Engineering Center, Fujian Medical University, Fuzhou, Fujian, China.
Ma X; Biomedical Engineering Center, Fujian Medical University, Fuzhou, Fujian, China.
Yang J; Graduate School of Peking Union Medical College, Beijing, China.

BMC Med Genet ; 19(1): 150, 2018 08 24.

Article em En | MEDLINE | ID: mdl-30143024

Assuntos

Catarata/genética; Fatores de Transcrição de Choque Térmico/genética; Mutação/genética; Povo Asiático/genética; China; Estudos de Coortes; Família; Feminino; Haplótipos/genética; Humanos; Masculino; Linhagem; Splicing de RNA/genética

Palavras-chave

Chinese; Congenital cataracts; HSF4; Mutation

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Catarata / Fatores de Transcrição de Choque Térmico / Mutação Tipo de estudo: Etiology_studies / Guideline / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: BMC Med Genet Ano de publicação: 2018 Tipo de documento: Article

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