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Identification of a novel CHN1 p.(Phe213Val) variant in a large Han Chinese family with congenital Duane retraction syndrome.
Zhou, Tai-Cheng; Duan, Wen-Hua; Fu, Xiao-Lin; Zhu, Qin; Guo, Li-Yun; Zhou, Yuan; Hua, Zhi-Juan; Li, Xue-Jiao; Yang, Dong-Mei; Zhang, Jie-Ying; Yin, Jie; Zhang, Xiao-Fan; Zhou, Guang-Long; Hu, Min.
Afiliación
  • Zhou TC; Department of Ophthalmology and Central Lab, The Second People's Hospital of Yunnan Province, Kunming, Yunnan Province, China.
  • Duan WH; Department of Ophthalmology and Central Lab, The Second People's Hospital of Yunnan Province, Kunming, Yunnan Province, China.
  • Fu XL; Hainan Western Central Hospital, Danzhou, Hainan Province, China.
  • Zhu Q; Department of Ophthalmology and Central Lab, The Second People's Hospital of Yunnan Province, Kunming, Yunnan Province, China.
  • Guo LY; Department of Ophthalmology and Central Lab, The Second People's Hospital of Yunnan Province, Kunming, Yunnan Province, China.
  • Zhou Y; Department of Ophthalmology and Central Lab, The Second People's Hospital of Yunnan Province, Kunming, Yunnan Province, China.
  • Hua ZJ; Department of Ophthalmology and Central Lab, The Second People's Hospital of Yunnan Province, Kunming, Yunnan Province, China.
  • Li XJ; Department of Ophthalmology and Central Lab, The Second People's Hospital of Yunnan Province, Kunming, Yunnan Province, China.
  • Yang DM; Department of Ophthalmology and Central Lab, The Second People's Hospital of Yunnan Province, Kunming, Yunnan Province, China.
  • Zhang JY; Department of Ophthalmology and Central Lab, The Second People's Hospital of Yunnan Province, Kunming, Yunnan Province, China.
  • Yin J; Department of Ophthalmology and Central Lab, The Second People's Hospital of Yunnan Province, Kunming, Yunnan Province, China.
  • Zhang XF; Department of Ophthalmology and Central Lab, The Second People's Hospital of Yunnan Province, Kunming, Yunnan Province, China.
  • Zhou GL; Department of Ophthalmology and Central Lab, The Second People's Hospital of Yunnan Province, Kunming, Yunnan Province, China.
  • Hu M; Department of Ophthalmology and Central Lab, The Second People's Hospital of Yunnan Province, Kunming, Yunnan Province, China. fudanhumin123@sina.com.
Sci Rep ; 10(1): 16225, 2020 10 01.
Article en En | MEDLINE | ID: mdl-33004823
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Retracción de Duane / Mutación Missense / Quimerina 1 / Pueblo Asiatico Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Sci Rep Año: 2020 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Retracción de Duane / Mutación Missense / Quimerina 1 / Pueblo Asiatico Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Sci Rep Año: 2020 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido