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A Distinct Phenotype of Eyes Shut Homolog (EYS)-Retinitis Pigmentosa Is Associated With Variants Near the C-Terminus.
Sengillo, Jesse D; Lee, Winston; Nagasaki, Takayuki; Schuerch, Kaspar; Yannuzzi, Lawrence A; Freund, K Bailey; Sparrow, Janet R; Allikmets, Rando; Tsang, Stephen H.
Afiliação
  • Sengillo JD; Department of Ophthalmology, Columbia University, New York, New York, USA; State University of New York at Downstate Medical Center, Brooklyn, New York, USA.
  • Lee W; Department of Ophthalmology, Columbia University, New York, New York, USA.
  • Nagasaki T; Department of Ophthalmology, Columbia University, New York, New York, USA.
  • Schuerch K; Department of Ophthalmology, Columbia University, New York, New York, USA.
  • Yannuzzi LA; Vitreous Retina Macula Consultants of New York, New York, New York, USA.
  • Freund KB; Vitreous Retina Macula Consultants of New York, New York, New York, USA.
  • Sparrow JR; Department of Ophthalmology, Columbia University, New York, New York, USA; Department of Pathology & Cell Biology, Stem Cell Initiative, Columbia University, New York, New York, USA.
  • Allikmets R; Department of Ophthalmology, Columbia University, New York, New York, USA; Department of Pathology & Cell Biology, Stem Cell Initiative, Columbia University, New York, New York, USA.
  • Tsang SH; Jonas Children's Vision Care, and Bernard & Shirlee Brown Glaucoma Laboratory, New York, New York, USA; Department of Ophthalmology, Columbia University, New York, New York, USA; Department of Pathology & Cell Biology, Stem Cell Initiative, Columbia University, New York, New York, USA; Insti
Am J Ophthalmol ; 190: 99-112, 2018 06.
Article em En | MEDLINE | ID: mdl-29550188

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Proteínas do Olho / Mutação Tipo de estudo: Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Ophthalmol Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Estados Unidos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Proteínas do Olho / Mutação Tipo de estudo: Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Ophthalmol Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Estados Unidos