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Genetic epidemiological study doesn't support GLA IVS4+919G>A variant is a significant mutation in Fabry disease.
Chiang, Hung-Lun; Wang, Nana Hsiang-Hua; Song, I-Wen; Chang, Chun-Ping; Wen, Ming-Shien; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Tsai, Fuu-Jen; Chen, Yuan-Tsong; Wu, Jer-Yuarn.
Afiliação
  • Chiang HL; Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
  • Wang NH; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
  • Song IW; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
  • Chang CP; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
  • Wen MS; School of Medicine, Chang Gung University, Taoyuan, Taiwan.
  • Chien YH; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
  • Hwu WL; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
  • Tsai FJ; Department of Medical Genetics, China Medical University Hospital, Taichung, Taiwan; School of Chinese Medicine, China Medical University, Taichung, Taiwan.
  • Chen YT; Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan; Department of Pediatrics, Duke University Medical Center, Durham, USA. Electronic address: chen0010@ibms.sinica.edu.tw.
  • Wu JY; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan; Graduate Institute of Chinese Medical Science, China Medical University, Taichung, Taiwan. Electronic address: jywu@ibms.sinica.edu.tw.
Mol Genet Metab ; 121(1): 22-27, 2017 05.
Article em En | MEDLINE | ID: mdl-28377241
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Fabry / Alfa-Galactosidase / Cardiopatias / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adult / Aged / Animals / Female / Humans / Male / Middle aged / Newborn País como assunto: Asia Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Fabry / Alfa-Galactosidase / Cardiopatias / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adult / Aged / Animals / Female / Humans / Male / Middle aged / Newborn País como assunto: Asia Idioma: En Ano de publicação: 2017 Tipo de documento: Article