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CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay.
Volodarsky, Michael; Lichtig, Hava; Leibson, Tom; Sadaka, Yair; Kadir, Rotem; Perez, Yonatan; Liani-Leibson, Keren; Gradstein, Libe; Shaco-Levy, Ruthy; Shorer, Zamir; Frank, Dale; Birk, Ohad S.
Afiliación
  • Volodarsky M; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben Gurion University, Beer Sheva 84105, Israel.
  • Lichtig H; Department of Biochemistry, The Rappaport Family Institute for Research in the Medical Sciences, Faculty of Medicine, Technion, Israel Institute of Technology, Haifa 31096, Israel.
  • Leibson T; Department of Pediatrics, Soroka University Medical Center, Ben Gurion University, Beer Sheva 84101, Israel.
  • Sadaka Y; Department of Pediatrics, Soroka University Medical Center, Ben Gurion University, Beer Sheva 84101, Israel, Pediatric Neurology Unit, Soroka University Medical Center, Ben Gurion University, Beer Sheva 84101, 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, 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, Beer Sheva 84105, Israel.
  • Liani-Leibson K; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben Gurion University, Beer Sheva 84105, Israel.
  • Gradstein L; Department of Ophthalmology, Soroka University Medical Center and Clalit Health Services, Ben Gurion University, Beer Sheva 84101, Israel and.
  • Shaco-Levy R; Department of Pathology, Soroka University Medical Center, Ben Gurion University, Beer Sheva 84101, Israel.
  • Shorer Z; Department of Pediatrics, Soroka University Medical Center, Ben Gurion University, Beer Sheva 84101, Israel, Pediatric Neurology Unit, Soroka University Medical Center, Ben Gurion University, Beer Sheva 84101, Israel, Zlotowski Center of Neuroscience, Ben-Gurion University of the Negev, Beer Sheva 9
  • Frank D; Department of Biochemistry, The Rappaport Family Institute for Research in the Medical Sciences, Faculty of Medicine, Technion, Israel Institute of Technology, Haifa 31096, 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, Beer Sheva 84105, Israel, Genetics Institute, Soroka University Medical Center, Ben Gurion University, Beer Sheva 84101, Israel, obirk@bgu.ac.il.
Hum Mol Genet ; 24(22): 6485-91, 2015 Nov 15.
Article en En | MEDLINE | ID: mdl-26358778
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos Psicomotores / Proteínas / Exones / Hipotonía Muscular / Mutación Tipo de estudio: Prognostic_studies Límite: Humans / Male / Newborn Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2015 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: Trastornos Psicomotores / Proteínas / Exones / Hipotonía Muscular / Mutación Tipo de estudio: Prognostic_studies Límite: Humans / Male / Newborn Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Israel