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Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.
Lazar, Csilla H; Mutsuddi, Mousumi; Kimchi, Adva; Zelinger, Lina; Mizrahi-Meissonnier, Liliana; Marks-Ohana, Devorah; Boleda, Alexis; Ratnapriya, Rinki; Sharon, Dror; Swaroop, Anand; Banin, Eyal.
Afiliação
  • Lazar CH; Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States Molecular Biology Center, Interdisciplinary Research Institute on Bio-Nano Sciences, Babes-Bolyai-University, Cluj-Napoca, Romania.
  • Mutsuddi M; Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States Department of Molecular and Human Genetics, Banaras Hindu University, Varanasi, India.
  • Kimchi A; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Zelinger L; Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Mizrahi-Meissonnier L; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Marks-Ohana D; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Boleda A; Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States.
  • Ratnapriya R; Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States.
  • Sharon D; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Swaroop A; Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States.
  • Banin E; Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Invest Ophthalmol Vis Sci ; 56(1): 420-30, 2014 Dec 16.
Article em En | MEDLINE | ID: mdl-25515582
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: DNA / Retinose Pigmentar / Células Fotorreceptoras Retinianas Cones / Receptores de Superfície Celular / Guanilato Ciclase / Mutação Idioma: En Ano de publicação: 2014 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: DNA / Retinose Pigmentar / Células Fotorreceptoras Retinianas Cones / Receptores de Superfície Celular / Guanilato Ciclase / Mutação Idioma: En Ano de publicação: 2014 Tipo de documento: Article