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Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses.
Gao, Feng-Juan; Tian, Guo-Hong; Hu, Fang-Yuan; Wang, Dan-Dan; Li, Jian-Kang; Chang, Qing; Chen, Fang; Xu, Ge-Zhi; Liu, Wei; Wu, Ji-Hong.
Affiliation
  • Gao FJ; Eye Institute, Eye and ENT Hospital, Fudan University, Shanghai, 200032, China.
  • Tian GH; Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, China.
  • Hu FY; State Key Laboratory of Medical Neurobiology, Institutes of Brain Science and Collaborative Innovation Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, China.
  • Wang DD; NHC Key Laboratory of Myopia, Fudan University, Shanghai, China.
  • Li JK; Eye Institute, Eye and ENT Hospital, Fudan University, Shanghai, 200032, China.
  • Chang Q; Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, China.
  • Chen F; State Key Laboratory of Medical Neurobiology, Institutes of Brain Science and Collaborative Innovation Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, China.
  • Xu GZ; NHC Key Laboratory of Myopia, Fudan University, Shanghai, China.
  • Liu W; Eye Institute, Eye and ENT Hospital, Fudan University, Shanghai, 200032, China.
  • Wu JH; Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, China.
BMC Ophthalmol ; 20(1): 212, 2020 Jun 01.
Article in En | MEDLINE | ID: mdl-32487042

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Choroideremia / Adaptor Proteins, Signal Transducing / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Aged / Female / Humans / Male / Middle aged Language: En Journal: BMC Ophthalmol Journal subject: OFTALMOLOGIA Year: 2020 Document type: Article Affiliation country: China Country of publication: Reino Unido

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Choroideremia / Adaptor Proteins, Signal Transducing / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Aged / Female / Humans / Male / Middle aged Language: En Journal: BMC Ophthalmol Journal subject: OFTALMOLOGIA Year: 2020 Document type: Article Affiliation country: China Country of publication: Reino Unido