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Novel allele-specific quantification methods reveal no effects of adult onset CAG repeats on HTT mRNA and protein levels.
Shin, Aram; Shin, Baehyun; Shin, Jun Wan; Kim, Kyung-Hee; Atwal, Ranjit S; Hope, Jennifer M; Gillis, Tammy; Leszyk, John D; Shaffer, Scott A; Lee, Ramee; Kwak, Seung; MacDonald, Marcy E; Gusella, James F; Seong, Ihn Sik; Lee, Jong-Min.
Afiliación
  • Shin A; Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Shin B; Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Shin JW; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.
  • Kim KH; Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Atwal RS; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.
  • Hope JM; Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Gillis T; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.
  • Leszyk JD; Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Shaffer SA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.
  • Lee R; Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Kwak S; Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.
  • MacDonald ME; Proteomics and Mass Spectrometry Facility, University of Massachusetts Medical School, Worcester, MA 01655, USA.
  • Gusella JF; Proteomics and Mass Spectrometry Facility, University of Massachusetts Medical School, Worcester, MA 01655, USA.
  • Seong IS; CHDI Foundation, Princeton, NJ 08540, USA.
  • Lee JM; CHDI Foundation, Princeton, NJ 08540, USA.
Hum Mol Genet ; 26(7): 1258-1267, 2017 04 01.
Article en En | MEDLINE | ID: mdl-28165127
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encéfalo / Enfermedad de Huntington / Expansión de Repetición de Trinucleótido / Proteína Huntingtina Límite: Adult / Female / Humans / Male Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido
Texto completo
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encéfalo / Enfermedad de Huntington / Expansión de Repetición de Trinucleótido / Proteína Huntingtina Límite: Adult / Female / Humans / Male Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido