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Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred.
Gradstein, Libe; Zolotushko, Jenny; Sergeev, Yuri V; Lavy, Itay; Narkis, Ginat; Perez, Yonatan; Guigui, Sarah; Sharon, Dror; Banin, Eyal; Walter, Eyal; Lifshitz, Tova; Birk, Ohad S.
Afiliación
  • Gradstein L; Department of Ophthalmology, Soroka Medical Center and Clalit Health Services, Faculty of Health Sciences, Ben Gurion University, Beer Sheva, 84101, Israel.
  • Zolotushko J; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben Gurion University of the Negev, Beer-Sheva, 84105, Israel.
  • Sergeev YV; National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
  • Lavy I; Department of Ophthalmology, Soroka Medical Center and Clalit Health Services, Faculty of Health Sciences, Ben Gurion University, Beer Sheva, 84101, Israel.
  • Narkis G; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben Gurion University of the Negev, Beer-Sheva, 84105, Israel.
  • Perez Y; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben Gurion University of the Negev, Beer-Sheva, 84105, Israel.
  • Guigui S; Department of Ophthalmology, Soroka Medical Center and Clalit Health Services, Faculty of Health Sciences, Ben Gurion University, Beer Sheva, 84101, Israel.
  • Sharon D; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Banin E; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Walter E; Department of Ophthalmology, Soroka Medical Center and Clalit Health Services, Faculty of Health Sciences, Ben Gurion University, Beer Sheva, 84101, Israel.
  • Lifshitz T; Department of Ophthalmology, Soroka Medical Center and Clalit Health Services, Faculty of Health Sciences, Ben Gurion University, Beer Sheva, 84101, Israel.
  • Birk OS; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben Gurion University of the Negev, Beer-Sheva, 84105, Israel. obirk@bgu.ac.il.
BMC Med Genet ; 17(1): 52, 2016 07 30.
Article en En | MEDLINE | ID: mdl-27475985
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Receptores de Superficie Celular / Amaurosis Congénita de Leber / Guanilato Ciclasa Tipo de estudio: Clinical_trials / Etiology_studies / Prognostic_studies Límite: Adult / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Israel
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Receptores de Superficie Celular / Amaurosis Congénita de Leber / Guanilato Ciclasa Tipo de estudio: Clinical_trials / Etiology_studies / Prognostic_studies Límite: Adult / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Israel