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Clinical and functional characterization of a novel STUB1 frameshift mutation in autosomal dominant spinocerebellar ataxia type 48 (SCA48).
Chen, Huan-Yun; Hsu, Chia-Lang; Lin, Han-Yi; Lin, Yung-Feng; Tsai, Shih-Feng; Ho, Yu-Jung; Li, Ye-Ru; Tsai, Jin-Wu; Teng, Shu-Chun; Lin, Chin-Hsien.
Afiliação
  • Chen HY; Department of Microbiology, College of Medicine, National Taiwan University, No. 1, Section 1, Jen-Ai Road, Taipei, 10051, Taiwan.
  • Hsu CL; Department of Medical Research, National Taiwan University Hospital, Taipei, Taiwan.
  • Lin HY; Department of Neurology, National Taiwan University Hospital, Number 7, Chung-Shan South Road, Taipei, 10051, Taiwan.
  • Lin YF; Department of Life Sciences and Institute of Genome Sciences, National Yang-Ming University, Taipei, Taiwan.
  • Tsai SF; Institute of Molecular and Genomic Medicine, National Health Research Institutes, Zhunan, Taiwan.
  • Ho YJ; Department of Life Sciences and Institute of Genome Sciences, National Yang-Ming University, Taipei, Taiwan.
  • Li YR; Institute of Molecular and Genomic Medicine, National Health Research Institutes, Zhunan, Taiwan.
  • Tsai JW; Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University, Taipei, 112, Taiwan.
  • Teng SC; Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University, Taipei, 112, Taiwan.
  • Lin CH; Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University, Taipei, 112, Taiwan.
J Biomed Sci ; 28(1): 65, 2021 Sep 26.
Article em En | MEDLINE | ID: mdl-34565360
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação da Fase de Leitura / Ataxias Espinocerebelares / Ubiquitina-Proteína Ligases Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Revista: J Biomed Sci Assunto da revista: MEDICINA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Taiwan
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação da Fase de Leitura / Ataxias Espinocerebelares / Ubiquitina-Proteína Ligases Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Revista: J Biomed Sci Assunto da revista: MEDICINA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Taiwan