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Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs.
Jung, Roy; Lee, Yejin; Barker, Douglas; Correia, Kevin; Shin, Baehyun; Loupe, Jacob; Collins, Ryan L; Lucente, Diane; Ruliera, Jayla; Gillis, Tammy; Mysore, Jayalakshmi S; Rodan, Lance; Picker, Jonathan; Lee, Jong-Min; Howland, David; Lee, Ramee; Kwak, Seung; MacDonald, Marcy E; Gusella, James F; Seong, Ihn Sik.
  • Jung R; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Lee Y; Department of Neurology, Harvard Medical School, Boston, MA 02114, USA.
  • Barker D; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Correia K; Department of Neurology, Harvard Medical School, Boston, MA 02114, USA.
  • Shin B; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Loupe J; Department of Neurology, Harvard Medical School, Boston, MA 02114, USA.
  • Collins RL; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Lucente D; Department of Neurology, Harvard Medical School, Boston, MA 02114, USA.
  • Ruliera J; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Gillis T; Department of Neurology, Harvard Medical School, Boston, MA 02114, USA.
  • Mysore JS; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Rodan L; Department of Neurology, Harvard Medical School, Boston, MA 02114, USA.
  • Picker J; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Lee JM; Medical and Population Genetics Program, The Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA.
  • Howland D; Program in Bioinformatics and Integrative Genomics, Division of Medical Sciences, Harvard Medical School, Boston, MA 02114, USA.
  • Lee R; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Kwak S; Department of Neurology, Harvard Medical School, Boston, MA 02114, USA.
  • MacDonald ME; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Gusella JF; Department of Neurology, Harvard Medical School, Boston, MA 02114, USA.
  • Seong IS; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
Hum Mol Genet ; 30(3-4): 135-148, 2021 04 26.
Article en En | MEDLINE | ID: mdl-33432339
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Regulación de la Expresión Génica / Trastornos del Neurodesarrollo / Proteína Huntingtina / Mutación Límite: Child / Child, preschool / Female / Humans / Male Idioma: En Año: 2021 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Regulación de la Expresión Génica / Trastornos del Neurodesarrollo / Proteína Huntingtina / Mutación Límite: Child / Child, preschool / Female / Humans / Male Idioma: En Año: 2021 Tipo del documento: Article