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A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia.
Tsoi, Ho; Yu, Allen C S; Chen, Zhefan S; Ng, Nelson K N; Chan, Anne Y Y; Yuen, Liz Y P; Abrigo, Jill M; Tsang, Suk Ying; Tsui, Stephen K W; Tong, Tony M F; Lo, Ivan F M; Lam, Stephen T S; Mok, Vincent C T; Wong, Lawrence K S; Ngo, Jacky C K; Lau, Kwok-Fai; Chan, Ting-Fung; Chan, H Y Edwin.
Afiliação
  • Tsoi H; Faculty of Science, Laboratory of Drosophila Research, School of Life Sciences, The Chinese University of Hong Kong, Hong Kong, Hong Kong Faculty of Science, Biochemistry Programme, School of Life Sciences, The Chinese University of Hong Kong, Hong Kong, Hong Kong.
  • Yu AC; Faculty of Science, Biochemistry Programme, School of Life Sciences, The Chinese University of Hong Kong, Hong Kong, Hong Kong.
  • Chen ZS; Faculty of Science, Laboratory of Drosophila Research, School of Life Sciences, The Chinese University of Hong Kong, Hong Kong, Hong Kong Faculty of Science, Biochemistry Programme, School of Life Sciences, The Chinese University of Hong Kong, Hong Kong, Hong Kong.
  • Ng NK; Faculty of Science, Laboratory of Drosophila Research, School of Life Sciences, The Chinese University of Hong Kong, Hong Kong, Hong Kong Faculty of Science, Biochemistry Programme, School of Life Sciences, The Chinese University of Hong Kong, Hong Kong, Hong Kong.
  • Chan AY; Faculty of Medicine, Division of Neurology, Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, Hong Kong.
  • Yuen LY; Faculty of Medicine, Department of Chemical Pathology, The Chinese University of Hong Kong, Hong Kong, Hong Kong.
  • Abrigo JM; Faculty of Medicine, Department of Imaging and Interventional Radiology, The Chinese University of Hong Kong, Hong Kong, Hong Kong.
  • Tsang SY; Faculty of Science, Biochemistry Programme, School of Life Sciences, The Chinese University of Hong Kong, Hong Kong, Hong Kong Partner State Key Laboratory of Agrobiotechnology, The Chinese University of Hong Kong, Hong Kong.
  • Tsui SK; Faculty of Medicine, School of Biomedical Sciences, The Chinese University of Hong Kong, Hong Kong, Hong Kong.
  • Tong TM; Clinical Genetic Service, Department of Health, The Government of Hong Kong, Hong Kong, Hong Kong.
  • Lo IF; Clinical Genetic Service, Department of Health, The Government of Hong Kong, Hong Kong, Hong Kong.
  • Lam ST; Clinical Genetic Service, Department of Health, The Government of Hong Kong, Hong Kong, Hong Kong.
  • Mok VC; Faculty of Medicine, Division of Neurology, Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, Hong Kong.
  • Wong LK; Faculty of Medicine, Division of Neurology, Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, Hong Kong.
  • Ngo JC; Faculty of Science, Biochemistry Programme, School of Life Sciences, The Chinese University of Hong Kong, Hong Kong, Hong Kong.
  • Lau KF; Faculty of Science, Biochemistry Programme, School of Life Sciences, The Chinese University of Hong Kong, Hong Kong, Hong Kong.
  • Chan TF; Faculty of Science, Biochemistry Programme, School of Life Sciences, The Chinese University of Hong Kong, Hong Kong, Hong Kong Partner State Key Laboratory of Agrobiotechnology, The Chinese University of Hong Kong, Hong Kong.
  • Chan HY; Faculty of Science, Laboratory of Drosophila Research, School of Life Sciences, The Chinese University of Hong Kong, Hong Kong, Hong Kong Faculty of Science, Biochemistry Programme, School of Life Sciences, The Chinese University of Hong Kong, Hong Kong, Hong Kong.
J Med Genet ; 51(9): 590-5, 2014 Sep.
Article em En | MEDLINE | ID: mdl-25062847
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Ataxias Espinocerebelares / Sistema de Sinalização das MAP Quinases / Peptídeos e Proteínas de Sinalização Intracelular / Proteínas dos Microfilamentos Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Humans / Middle aged País/Região como assunto: Asia Idioma: En Revista: J Med Genet Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Hong Kong
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Ataxias Espinocerebelares / Sistema de Sinalização das MAP Quinases / Peptídeos e Proteínas de Sinalização Intracelular / Proteínas dos Microfilamentos Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Humans / Middle aged País/Região como assunto: Asia Idioma: En Revista: J Med Genet Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Hong Kong