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Nonsyndromic retinitis pigmentosa caused by two novel variants in the HGSNAT gene in a Chinese family.
Long, Yanling; Li, Sha; Dai, Limeng; Liu, Xiao; Yin, Xin; Ren, Jiayun; Guo, Hong; Liu, Yong; Meng, Xiaohong; Li, Shiying.
Affiliation
  • Long Y; Southwest Hospital/Southwest Eye Hospital, Third Military Medical University (Army Medical University) , Chongqing, China.
  • Li S; Key Lab of Visual Damage and Regeneration & Restoration of Chongqing , Chongqing, China.
  • Dai L; Southwest Hospital/Southwest Eye Hospital, Third Military Medical University (Army Medical University) , Chongqing, China.
  • Liu X; Key Lab of Visual Damage and Regeneration & Restoration of Chongqing , Chongqing, China.
  • Yin X; Department of Medical Genetics, Third Military Medical University (Army Medical University) , Chongqing, China.
  • Ren J; Southwest Hospital/Southwest Eye Hospital, Third Military Medical University (Army Medical University) , Chongqing, China.
  • Guo H; Key Lab of Visual Damage and Regeneration & Restoration of Chongqing , Chongqing, China.
  • Liu Y; Southwest Hospital/Southwest Eye Hospital, Third Military Medical University (Army Medical University) , Chongqing, China.
  • Meng X; Key Lab of Visual Damage and Regeneration & Restoration of Chongqing , Chongqing, China.
  • Li S; Southwest Hospital/Southwest Eye Hospital, Third Military Medical University (Army Medical University) , Chongqing, China.
Ophthalmic Genet ; 41(4): 390-393, 2020 08.
Article in En | MEDLINE | ID: mdl-32347150
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Acetyltransferases / Retinitis Pigmentosa / Asian People / Eye Proteins / Mutation Type of study: Etiology_studies Limits: Adult / Female / Humans / Male Language: En Journal: Ophthalmic Genet Journal subject: GENETICA MEDICA / OFTALMOLOGIA Year: 2020 Document type: Article Affiliation country: China Country of publication: United kingdom
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Acetyltransferases / Retinitis Pigmentosa / Asian People / Eye Proteins / Mutation Type of study: Etiology_studies Limits: Adult / Female / Humans / Male Language: En Journal: Ophthalmic Genet Journal subject: GENETICA MEDICA / OFTALMOLOGIA Year: 2020 Document type: Article Affiliation country: China Country of publication: United kingdom