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Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease.
Wright, Galen E B; Collins, Jennifer A; Kay, Chris; McDonald, Cassandra; Dolzhenko, Egor; Xia, Qingwen; Becanovic, Kristina; Drögemöller, Britt I; Semaka, Alicia; Nguyen, Charlotte M; Trost, Brett; Richards, Fiona; Bijlsma, Emilia K; Squitieri, Ferdinando; Ross, Colin J D; Scherer, Stephen W; Eberle, Michael A; Yuen, Ryan K C; Hayden, Michael R.
Afiliação
  • Wright GEB; Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, Vancouver, BC V5Z 4H4, Canada.
  • Collins JA; Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, Vancouver, BC V5Z 4H4, Canada.
  • Kay C; Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, Vancouver, BC V5Z 4H4, Canada.
  • McDonald C; Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, Vancouver, BC V5Z 4H4, Canada.
  • Dolzhenko E; Illumina Inc, San Diego, CA 92121, USA.
  • Xia Q; Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, Vancouver, BC V5Z 4H4, Canada.
  • Becanovic K; Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, Vancouver, BC V5Z 4H4, Canada; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm 171 77, Sweden.
  • Drögemöller BI; Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC V6T 1Z3, Canada.
  • Semaka A; Department of Psychiatry, University of British Columbia, Vancouver, BC V6T 2A1, Canada.
  • Nguyen CM; The Hospital For Sick Children, The Centre for Applied Genomics, Genetics and Genome Biology, Toronto, ON M5G 0A4, Canada; University of Toronto, Department of Molecular Genetics, Toronto, ON M5G 0A4, Canada.
  • Trost B; The Hospital For Sick Children, The Centre for Applied Genomics, Genetics and Genome Biology, Toronto, ON M5G 0A4, Canada.
  • Richards F; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
  • Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden 2333, the Netherlands.
  • Squitieri F; Huntington and Rare Diseases Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo 71013, Italy.
  • Ross CJD; Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC V6T 1Z3, Canada.
  • Scherer SW; The Hospital For Sick Children, The Centre for Applied Genomics, Genetics and Genome Biology, Toronto, ON M5G 0A4, Canada; University of Toronto, Department of Molecular Genetics, Toronto, ON M5G 0A4, Canada; McLaughlin Centre, University of Toronto, Toronto, ON M5G 0A4, Canada.
  • Eberle MA; Illumina Inc, San Diego, CA 92121, USA.
  • Yuen RKC; The Hospital For Sick Children, The Centre for Applied Genomics, Genetics and Genome Biology, Toronto, ON M5G 0A4, Canada; University of Toronto, Department of Molecular Genetics, Toronto, ON M5G 0A4, Canada.
  • Hayden MR; Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, Vancouver, BC V5Z 4H4, Canada. Electronic address: mrh@cmmt.ubc.ca.
Am J Hum Genet ; 104(6): 1116-1126, 2019 06 06.
Article em En | MEDLINE | ID: mdl-31104771
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Peptídeos / Códon / Doença de Huntington / Expansão das Repetições de Trinucleotídeos Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Hum Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Canadá País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Peptídeos / Códon / Doença de Huntington / Expansão das Repetições de Trinucleotídeos Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Hum Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Canadá País de publicação: Estados Unidos