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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.
Affiliation
  • 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 in En | MEDLINE | ID: mdl-28836894
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cataract / Aquaporins / Mutation, Missense / Asian People / Eye Proteins Type of study: Prognostic_studies Limits: Adolescent / Female / Humans Language: En Journal: Ophthalmic Genet Journal subject: GENETICA MEDICA / OFTALMOLOGIA Year: 2018 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cataract / Aquaporins / Mutation, Missense / Asian People / Eye Proteins Type of study: Prognostic_studies Limits: Adolescent / Female / Humans Language: En Journal: Ophthalmic Genet Journal subject: GENETICA MEDICA / OFTALMOLOGIA Year: 2018 Document type: Article Affiliation country: Country of publication: