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SEC31A mutation affects ER homeostasis, causing a neurological syndrome.
Halperin, Daniel; Kadir, Rotem; Perez, Yonatan; Drabkin, Max; Yogev, Yuval; Wormser, Ohad; Berman, Erez M; Eremenko, Ekaterina; Rotblat, Barak; Shorer, Zamir; Gradstein, Libe; Shelef, Ilan; Birk, Ruth; Abdu, Uri; Flusser, Hagit; Birk, Ohad S.
Afiliación
  • Halperin D; 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, Israel.
  • Kadir R; 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, 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, Israel.
  • Drabkin M; 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, Israel.
  • Yogev 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, Israel.
  • Wormser O; 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, Israel.
  • Berman EM; 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, Israel.
  • Eremenko E; The Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Zlotowski Center for Neuroscience, The National Institute of Biotechnology in the Negev; Ben-Gurion University of the Negev, Beer Sheva, Israel.
  • Rotblat B; Department of Life Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.
  • Shorer Z; Pediatric Neurology Unit, Division of Pediatrics, Soroka University Medical Center, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.
  • Gradstein L; Department of Ophthalmology, Clalit Health Services, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.
  • Shelef I; Department of Imaging, Soroka University Medical Center, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.
  • Birk R; Department of Nutrition, Faculty of Health Sciences, Ariel University, Ariel, Israel.
  • Abdu U; Department of Life Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.
  • Flusser H; Zussman Child Development Center, Division of Pediatrics, Soroka University Medical Center, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, 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, Israel.
J Med Genet ; 56(3): 139-148, 2019 03.
Article en En | MEDLINE | ID: mdl-30464055
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas de Transporte Vesicular / Retículo Endoplásmico / Homeostasis / Mutación / Enfermedades del Sistema Nervioso Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Animals / Female / Humans / Male Idioma: En Revista: J Med Genet Año: 2019 Tipo del documento: Article País de afiliación: Israel
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas de Transporte Vesicular / Retículo Endoplásmico / Homeostasis / Mutación / Enfermedades del Sistema Nervioso Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Animals / Female / Humans / Male Idioma: En Revista: J Med Genet Año: 2019 Tipo del documento: Article País de afiliación: Israel