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Functional characterization of CEP250 variant identified in nonsyndromic retinitis pigmentosa.
Huang, Xiu-Feng; Xiang, Lue; Fang, Xiao-Long; Liu, Wei-Qin; Zhuang, You-Yuan; Chen, Zhen-Ji; Shen, Ren-Juan; Cheng, Wan; Han, Ru-Yi; Zheng, Si-Si; Chen, Xue-Jiao; Liu, Xiaoling; Jin, Zi-Bing.
Affiliation
  • Huang XF; Division of Ophthalmic Genetics, The Eye Hospital, Wenzhou Medical University, Wenzhou, China.
  • Xiang L; State Key Laboratory of Ophthalmology, Optometry and Vision Science, National International Joint Research Center for Regenerative Medicine and Neurogenetics, Wenzhou Medical University, Wenzhou, China.
  • Fang XL; Division of Ophthalmic Genetics, The Eye Hospital, Wenzhou Medical University, Wenzhou, China.
  • Liu WQ; State Key Laboratory of Ophthalmology, Optometry and Vision Science, National International Joint Research Center for Regenerative Medicine and Neurogenetics, Wenzhou Medical University, Wenzhou, China.
  • Zhuang YY; Division of Ophthalmic Genetics, The Eye Hospital, Wenzhou Medical University, Wenzhou, China.
  • Chen ZJ; State Key Laboratory of Ophthalmology, Optometry and Vision Science, National International Joint Research Center for Regenerative Medicine and Neurogenetics, Wenzhou Medical University, Wenzhou, China.
  • Shen RJ; Division of Ophthalmic Genetics, The Eye Hospital, Wenzhou Medical University, Wenzhou, China.
  • Cheng W; State Key Laboratory of Ophthalmology, Optometry and Vision Science, National International Joint Research Center for Regenerative Medicine and Neurogenetics, Wenzhou Medical University, Wenzhou, China.
  • Han RY; Division of Ophthalmic Genetics, The Eye Hospital, Wenzhou Medical University, Wenzhou, China.
  • Zheng SS; State Key Laboratory of Ophthalmology, Optometry and Vision Science, National International Joint Research Center for Regenerative Medicine and Neurogenetics, Wenzhou Medical University, Wenzhou, China.
  • Chen XJ; Division of Ophthalmic Genetics, The Eye Hospital, Wenzhou Medical University, Wenzhou, China.
  • Liu X; State Key Laboratory of Ophthalmology, Optometry and Vision Science, National International Joint Research Center for Regenerative Medicine and Neurogenetics, Wenzhou Medical University, Wenzhou, China.
  • Jin ZB; Division of Ophthalmic Genetics, The Eye Hospital, Wenzhou Medical University, Wenzhou, China.
Hum Mutat ; 40(8): 1039-1045, 2019 08.
Article in En | MEDLINE | ID: mdl-30998843
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autoantigens / Retinitis Pigmentosa / Cell Cycle Proteins / Polymorphism, Single Nucleotide / Exome Sequencing Limits: Animals / Female / Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autoantigens / Retinitis Pigmentosa / Cell Cycle Proteins / Polymorphism, Single Nucleotide / Exome Sequencing Limits: Animals / Female / Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Affiliation country: Country of publication: