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Whole Exome Sequencing Identifies a Novel Homozygous Missense Mutation in the CSB Protein-Encoding ERCC6 Gene in a Taiwanese Boy with Cockayne Syndrome.
Lin, Ching-Ming; Yang, Jay-How; Lee, Hwei-Jen; Lin, Yu-Pang; Tsai, Li-Ping; Hsu, Chih-Sin; Luxton, G W Gant; Hu, Chih-Fen.
Afiliação
  • Lin CM; Department of Pediatrics, Tri-Service General Hospital, National Defense Medical Center, Taipei 11490, Taiwan.
  • Yang JH; Department of Pediatrics, Kaohsiung Armed Forces General Hospital, Kaohsiung 80284, Taiwan.
  • Lee HJ; Center for Applied Structural Discovery, Biodesign Institute, Arizona State University, Tempe, AZ 85281, USA.
  • Lin YP; Department of Biochemistry, National Defense Medical Center, Taipei 11490, Taiwan.
  • Tsai LP; Department of Radiology, Tri-Service General Hospital, National Defense Medical Center, Taipei 11490, Taiwan.
  • Hsu CS; Department of Pediatrics, Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, New Taipei 23142, Taiwan.
  • Luxton GWG; Genomics Center for Clinical and Biotechnological Applications of Cancer Progression Research Center, National Yang Ming Chiao Tung University, Taipei 11221, Taiwan.
  • Hu CF; Department of Molecular and Cellular Biology, University of California-Davis, Davis, CA 95616, USA.
Life (Basel) ; 11(11)2021 Nov 14.
Article em En | MEDLINE | ID: mdl-34833108
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Taiwan
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Taiwan