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Whole exome sequencing of a family revealed a novel variant in the CHM gene, c.22delG p.(Glu8Serfs*4), which co-segregated with choroideremia.
Dan, Handong; Li, Tuo; Lei, Xinlan; Huang, Xin; Xing, Yiqiao; Shen, Yin.
Affiliation
  • Dan H; Eye Center, Renmin Hospital of Wuhan University, Wuhan 430060, Hubei, China.
  • Li T; Department of Ophthalmology, The Central Hospital of Enshi Tujia and Miao Autonomous Prefecture, Enshi Clinical College of Wuhan University, Enshi 445000, Hubei, China.
  • Lei X; Eye Center, Renmin Hospital of Wuhan University, Wuhan 430060, Hubei, China.
  • Huang X; Eye Center, Renmin Hospital of Wuhan University, Wuhan 430060, Hubei, China.
  • Xing Y; Eye Center, Renmin Hospital of Wuhan University, Wuhan 430060, Hubei, China.
  • Shen Y; Eye Center, Renmin Hospital of Wuhan University, Wuhan 430060, Hubei, China.
Biosci Rep ; 40(5)2020 05 29.
Article in En | MEDLINE | ID: mdl-32364220
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Vision, Ocular / Choroideremia / Adaptor Proteins, Signal Transducing / Exome Sequencing Type of study: Diagnostic_studies Limits: Adult / Child / Female / Humans / Male / Middle aged Country/Region as subject: Asia Language: En Journal: Biosci Rep Year: 2020 Document type: Article Affiliation country: China Country of publication: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Vision, Ocular / Choroideremia / Adaptor Proteins, Signal Transducing / Exome Sequencing Type of study: Diagnostic_studies Limits: Adult / Child / Female / Humans / Male / Middle aged Country/Region as subject: Asia Language: En Journal: Biosci Rep Year: 2020 Document type: Article Affiliation country: China Country of publication: United kingdom