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Oguchi disease caused by a homozygous novel SAG splicing alteration associated with the multiple evanescent white dot syndrome: A 15-month follow-up.
Liu, Xiao; Gao, Lixia; Wang, Gang; Long, Yanling; Ren, Jiayun; Fujinami, Kaoru; Meng, Xiaohong; Li, Shiying.
Afiliação
  • Liu X; Southwest Hospital/Southwest Eye Hospital, Third Military Medical University (Army Medical University), No. 30 Gaotanyan Street Shapingba District, Chongqing, China.
  • Gao L; Key Lab of Visual Damage and Regeneration & Restoration of Chongqing, Chongqing, China.
  • Wang G; Laboratory of Visual Physiology, Division for Vision Research, National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center, Tokyo, Japan.
  • Long Y; Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan.
  • Ren J; Southwest Hospital/Southwest Eye Hospital, Third Military Medical University (Army Medical University), No. 30 Gaotanyan Street Shapingba District, Chongqing, China.
  • Fujinami K; Key Lab of Visual Damage and Regeneration & Restoration of Chongqing, Chongqing, China.
  • Meng X; Southwest Hospital/Southwest Eye Hospital, Third Military Medical University (Army Medical University), No. 30 Gaotanyan Street Shapingba District, Chongqing, China.
  • Li S; Key Lab of Visual Damage and Regeneration & Restoration of Chongqing, Chongqing, China.
Doc Ophthalmol ; 141(3): 217-226, 2020 12.
Article em En | MEDLINE | ID: mdl-32333190
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Oftalmopatias Hereditárias / Cegueira Noturna / Arrestina / Sítios de Splice de RNA / Síndrome dos Pontos Brancos Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Oftalmopatias Hereditárias / Cegueira Noturna / Arrestina / Sítios de Splice de RNA / Síndrome dos Pontos Brancos Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article