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

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.

Afiliação

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 em En | MEDLINE | ID: mdl-26358778

Assuntos

Éxons; Hipotonia Muscular/genética; Mutação; Proteínas/genética; Transtornos Psicomotores/genética; Cromossomos Humanos Par 3; RNA Helicases DEAD-box; Fator de Iniciação 4A em Eucariotos; Genes Recessivos; Estudos de Associação Genética; Ligação Genética; Haplótipos; Homozigoto; Humanos; Recém-Nascido; Masculino; Hipotonia Muscular/congênito; Linhagem; Transtornos Psicomotores/congênito; Técnicas do Sistema de Duplo-Híbrido

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos Psicomotores / Proteínas / Éxons / Hipotonia Muscular / Mutação Tipo de estudo: Prognostic_studies Limite: Humans / Male / Newborn Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Israel

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