Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities.

Sun, Zixi; Zhou, Qi; Li, Huajin; Yang, Lizhu; Wu, Shijing; Sui, Ruifang

Sun, Zixi; Zhou, Qi; Li, Huajin; Yang, Lizhu; Wu, Shijing; Sui, Ruifang.

Afiliación

Sun Z; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
Zhou Q; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
Li H; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
Yang L; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
Wu S; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
Sui R; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.

Mol Vis ; 23: 977-986, 2017.

Article en En | MEDLINE | ID: mdl-29386872

Asunto(s)

Catarata/genética; Anomalías del Ojo/genética; Mutación; Cadena B de beta-Cristalina/genética; gamma-Cristalinas/genética; Adulto; Anciano; Pueblo Asiatico/genética; Catarata/congénito; Análisis Mutacional de ADN; Femenino; Genotipo; Secuenciación de Nucleótidos de Alto Rendimiento/métodos; Humanos; Masculino; Persona de Mediana Edad; Linaje; Fenotipo; Adulto Joven

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Catarata / Anomalías del Ojo / Cadena B de beta-Cristalina / Gamma-Cristalinas / Mutación Tipo de estudio: Risk_factors_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Mol Vis Asunto de la revista: BIOLOGIA MOLECULAR / OFTALMOLOGIA Año: 2017 Tipo del documento: Article País de afiliación: China

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