A novel causative mutation for congenital cataract and its underlying pathogenesis.

Xiu, Yanghui; Fan, Yuanrong; Wu, Kangni; Chen, Shuimiao; Pan, Meihua; Xu, Xun; Zhu, Yihua

Xiu, Yanghui; Fan, Yuanrong; Wu, Kangni; Chen, Shuimiao; Pan, Meihua; Xu, Xun; Zhu, Yihua.

Afiliación

Xiu Y; a Eye Institute & Xiamen eye Center , Affiliated Xiamen University , Xiamen , Fujian , China.
Fan Y; b Department of Ophthalmology , The First Affiliated Hospital of Fujian Medical University , Fuzhou , Fujian , China.
Wu K; c Department of Hematology , The First Hospital Affiliated Xiamen University , Xiamen , China.
Chen S; a Eye Institute & Xiamen eye Center , Affiliated Xiamen University , Xiamen , Fujian , China.
Pan M; a Eye Institute & Xiamen eye Center , Affiliated Xiamen University , Xiamen , Fujian , China.
Xu X; d Shanghai Key Laboratory of Ocular Fundus Diseases, Shanghai General hospital , Shanghai Jiao Tong University , Shanghai , China.
Zhu Y; b Department of Ophthalmology , The First Affiliated Hospital of Fujian Medical University , Fuzhou , Fujian , China.

Ophthalmic Genet ; 40(1): 66-68, 2019 02.

Article en En | MEDLINE | ID: mdl-30585525

Asunto(s)

Acuaporinas/genética; Catarata/congénito; Catarata/patología; Proteínas del Ojo/genética; Mutación; Acuaporinas/química; Catarata/etiología; Proteínas del Ojo/química; Femenino; Humanos; Masculino; Persona de Mediana Edad; Linaje; Pronóstico; Conformación Proteica

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Catarata / Acuaporinas / Proteínas del Ojo / Mutación Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Female / Humans / Male / Middle aged Idioma: En Revista: Ophthalmic Genet Asunto de la revista: GENETICA MEDICA / OFTALMOLOGIA Año: 2019 Tipo del documento: Article País de afiliación: China

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