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A novel deep intronic variant strongly associates with Alkaptonuria.
Lai, Chien-Yi; Tsai, I-Jung; Chiu, Pao-Chin; Ascher, David B; Chien, Yin-Hsiu; Huang, Yu-Hsuan; Lin, Yi-Lin; Hwu, Wuh-Liang; Lee, Ni-Chung.
Afiliação
  • Lai CY; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
  • Tsai IJ; Department of Pediatrics, National Taiwan University Children Hospital, Taipei, Taiwan.
  • Chiu PC; Department of Pediatrics, National Taiwan University Hospital Hsin-Chu Branch, Hsin-Chu, Taiwan.
  • Ascher DB; Department of Pediatrics, National Taiwan University Children Hospital, Taipei, Taiwan.
  • Chien YH; Department of Pediatrics, Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan.
  • Huang YH; Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC, Australia.
  • Lin YL; Structural Biology and Bioinformatics, Department of Biochemistry and Pharmacology, University of Melbourne, Melbourne, VIC, Australia.
  • Hwu WL; Systems and Computational Biology, Bio21 Institute, University of Melbourne, Melbourne, VIC, Australia.
  • Lee NC; Department of Biochemistry, Bio21 Institute, University of Cambridge, Cambridge, UK.
NPJ Genom Med ; 6(1): 89, 2021 Oct 22.
Article em En | MEDLINE | ID: mdl-34686677
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Ano de publicação: 2021 Tipo de documento: Article