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A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
Toro, Camilo; Hori, Roderick T; Malicdan, May Christine V; Tifft, Cynthia J; Goldstein, Amy; Gahl, William A; Adams, David R; Fauni, Harper B; Wolfe, Lynne A; Xiao, Jianfeng; Khan, Mohammad M; Tian, Jun; Hope, Kevin A; Reiter, Lawrence T; Tremblay, Michel G; Moss, Tom; Franks, Alexis L; Balak, Chris; LeDoux, Mark S.
Afiliación
  • Toro C; Undiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Hori RT; Department of Microbiology, Immunology and Biochemistry, University of Tennessee Health Science Center, Memphis, TN, USA.
  • Malicdan MCV; Undiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Tifft CJ; Undiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Goldstein A; Division of Child Neurology, Department of Pediatrics, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
  • Gahl WA; Undiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Adams DR; Undiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Fauni HB; Undiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Wolfe LA; Undiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Xiao J; Departments of Neurology and Anatomy & Neurobiology, University of Tennessee Health Science Center, Memphis, TN, USA.
  • Khan MM; Departments of Neurology and Anatomy & Neurobiology, University of Tennessee Health Science Center, Memphis, TN, USA.
  • Tian J; Departments of Neurology and Anatomy & Neurobiology, University of Tennessee Health Science Center, Memphis, TN, USA.
  • Hope KA; Integrated Program in Biological Sciences, University of Tennessee Health Science Center, Memphis, TN, USA.
  • Reiter LT; Departments of Neurology and Anatomy & Neurobiology, University of Tennessee Health Science Center, Memphis, TN, USA.
  • Tremblay MG; Department of Pediatrics, University of Tennessee Health Science Center, Memphis, TN, USA.
  • Moss T; Laboratory of Growth and Development, St-Patrick Research Group in Basic Oncology, Cancer Division of the Quebec University Hospital Research Centre, Canada.
  • Franks AL; Department of Molecular Biology, Medical Biochemistry and Pathology, Faculty of Medicine, Laval University, QC, Canada.
  • Balak C; Laboratory of Growth and Development, St-Patrick Research Group in Basic Oncology, Cancer Division of the Quebec University Hospital Research Centre, Canada.
  • LeDoux MS; Division of Child Neurology, Department of Pediatrics, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
Hum Mol Genet ; 27(7): 1310, 2018 04 01.
Article en En | MEDLINE | ID: mdl-29447355
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Etiology_studies Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Etiology_studies Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos