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A novel mutation of MIP in a Chinese family with congenital nuclear cataract identified by whole-exome sequencing.
Liu, Shuaimei; Zhu, Peiran; Ni, Mengxia; Zhang, Mingchao; Jiang, Weijun; Yu, Maomao; Zhang, Jing; Wu, Qiuyue; Li, Weiwei; Xue, Chunyan; Xia, Xinyi.
Afiliación
  • Liu S; a Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine , Nanjing , China.
  • Zhu P; a Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine , Nanjing , China.
  • Ni M; a Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine , Nanjing , China.
  • Zhang M; a Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine , Nanjing , China.
  • Jiang W; a Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine , Nanjing , China.
  • Yu M; a Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine , Nanjing , China.
  • Zhang J; a Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine , Nanjing , China.
  • Wu Q; a Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine , Nanjing , China.
  • Li W; a Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine , Nanjing , China.
  • Xue C; b Department of Ophthalmology , Jinling Hospital, Nanjing University School of Medicine , Nanjing , China.
  • Xia X; a Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine , Nanjing , China.
Ophthalmic Genet ; 39(1): 139-140, 2018.
Article en En | MEDLINE | ID: mdl-28836894
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Catarata / Acuaporinas / Mutación Missense / Pueblo Asiatico / Proteínas del Ojo Tipo de estudio: Prognostic_studies Límite: Adolescent / Female / Humans Idioma: En Revista: Ophthalmic Genet Asunto de la revista: GENETICA MEDICA / OFTALMOLOGIA Año: 2018 Tipo del documento: Article País de afiliación: China
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Catarata / Acuaporinas / Mutación Missense / Pueblo Asiatico / Proteínas del Ojo Tipo de estudio: Prognostic_studies Límite: Adolescent / Female / Humans Idioma: En Revista: Ophthalmic Genet Asunto de la revista: GENETICA MEDICA / OFTALMOLOGIA Año: 2018 Tipo del documento: Article País de afiliación: China