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Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa.
Oh, Jin Kyun; Lima de Carvalho, Jose Ronaldo; Sun, Young Joo; Ragi, Sara; Yang, Jing; Levi, Sarah R; Ryu, Joseph; Bassuk, Alexander G; Mahajan, Vinit B; Tsang, Stephen H.
Afiliação
  • Oh JK; Department of Ophthalmology, Columbia University Medical Center, New York, NY, USA.
  • Lima de Carvalho JR; State University of New York at Downstate Medical Center, Brooklyn, NY, USA.
  • Sun YJ; Department of Ophthalmology, Columbia University Medical Center, New York, NY, USA.
  • Ragi S; Department of Ophthalmology, Empresa Brasileira de Servicos Hospitalares (EBSERH) - Hospital das Clinicas de Pernambuco (HCPE), Federal University of Pernambuco (UFPE), Recife, Brazil.
  • Yang J; Department of Ophthalmology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil.
  • Levi SR; Omics Laboratory, Byers Eye Institute, Stanford University, Palo Alto, CA, USA.
  • Ryu J; Department of Ophthalmology, Columbia University Medical Center, New York, NY, USA.
  • Bassuk AG; Omics Laboratory, Byers Eye Institute, Stanford University, Palo Alto, CA, USA.
  • Mahajan VB; Department of Ophthalmology, Columbia University Medical Center, New York, NY, USA.
  • Tsang SH; Department of Ophthalmology, Columbia University Medical Center, New York, NY, USA.
Orphanet J Rare Dis ; 14(1): 295, 2019 12 19.
Article em En | MEDLINE | ID: mdl-31856884
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Autoantígenos / Retinose Pigmentar / Distrofias Retinianas / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Autoantígenos / Retinose Pigmentar / Distrofias Retinianas / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2019 Tipo de documento: Article