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A novel missense mutation of NDP in a Chinese family with X-linked familial exudative vitreoretinopathy.
Liu, Hong Yan; Huang, Jia; Wang, Rui Li; Wang, Yue; Guo, Liang Jie; Li, Tao; Wu, Dong; Wang, Hong Dan; Guo, Qian Nan; Dong, Dao Quan.
Afiliação
  • Liu HY; Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan, China. Electronic address: liuhongyanqhhy@126.com.
  • Huang J; Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan, China.
  • Wang RL; Department of Ultrasonography, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan, China.
  • Wang Y; Department of Gynecology and Obstetrics, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan, China.
  • Guo LJ; Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan, China.
  • Li T; Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan, China.
  • Wu D; Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan, China.
  • Wang HD; Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan, China.
  • Guo QN; Department of Medical Genetics Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan, China.
  • Dong DQ; Department of Medical Eye Institute, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan, China.
J Chin Med Assoc ; 79(11): 633-638, 2016 Nov.
Article em En | MEDLINE | ID: mdl-27720678

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Retinianas / Mutação de Sentido Incorreto / Doenças Genéticas Ligadas ao Cromossomo X / Proteínas do Olho / Proteínas do Tecido Nervoso Limite: Adolescent / Adult / Aged / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: J Chin Med Assoc Assunto da revista: MEDICINA Ano de publicação: 2016 Tipo de documento: Article País de publicação: Holanda

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Retinianas / Mutação de Sentido Incorreto / Doenças Genéticas Ligadas ao Cromossomo X / Proteínas do Olho / Proteínas do Tecido Nervoso Limite: Adolescent / Adult / Aged / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: J Chin Med Assoc Assunto da revista: MEDICINA Ano de publicação: 2016 Tipo de documento: Article País de publicação: Holanda