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A Novel, Recurrent, 3.6-kb Deletion in the PYGL Gene Contributes to Glycogen Storage Disease Type VI.
Liu, Bo; Wu, Bingbing; Lu, Yi; Zhang, Ping; Xiao, Feifan; Li, Gang; Wang, Huijun; Dong, Xinran; Liu, Renchao; Li, Yuchuan; Xie, Xinbao; Zhou, Wenhao; Wang, Jianshe; Lu, Yulan.
Afiliação
  • Liu B; Centers for Molecular Medicine, Children's Hospital of Fudan University, Shanghai, China; Institutes of Biomedical Sciences, Children's Hospital of Fudan University, Shanghai, China.
  • Wu B; Centers for Molecular Medicine, Children's Hospital of Fudan University, Shanghai, China; Shanghai Key Laboratory of Birth Defects, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China.
  • Lu Y; Department of Hepatology and Infectious Disease, Children's Hospital of Fudan University, Shanghai, China.
  • Zhang P; Centers for Molecular Medicine, Children's Hospital of Fudan University, Shanghai, China; Shanghai Key Laboratory of Birth Defects, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China.
  • Xiao F; Institutes of Biomedical Sciences, Children's Hospital of Fudan University, Shanghai, China.
  • Li G; Centers for Molecular Medicine, Children's Hospital of Fudan University, Shanghai, China.
  • Wang H; Shanghai Key Laboratory of Birth Defects, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China.
  • Dong X; Centers for Molecular Medicine, Children's Hospital of Fudan University, Shanghai, China.
  • Liu R; Centers for Molecular Medicine, Children's Hospital of Fudan University, Shanghai, China; Shanghai Key Laboratory of Birth Defects, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China.
  • Li Y; Department of Hepatology and Infectious Disease, Children's Hospital of Fudan University, Shanghai, China.
  • Xie X; Department of Hepatology and Infectious Disease, Children's Hospital of Fudan University, Shanghai, China.
  • Zhou W; Institutes of Biomedical Sciences, Children's Hospital of Fudan University, Shanghai, China; Shanghai Key Laboratory of Birth Defects, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China.
  • Wang J; Department of Hepatology and Infectious Disease, Children's Hospital of Fudan University, Shanghai, China; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China. Electronic address: jshwang@shmu.edu.cn.
  • Lu Y; Institutes of Biomedical Sciences, Children's Hospital of Fudan University, Shanghai, China. Electronic address: yulanlu@fudan.edu.cn.
J Mol Diagn ; 22(12): 1373-1382, 2020 12.
Article em En | MEDLINE | ID: mdl-32961316
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Depósito de Glicogênio Tipo VI / Deleção de Genes / Polimorfismo de Nucleotídeo Único / Glicogênio Fosforilase Hepática Tipo de estudo: Observational_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male / Newborn País/Região como assunto: Asia Idioma: En Revista: J Mol Diagn Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Depósito de Glicogênio Tipo VI / Deleção de Genes / Polimorfismo de Nucleotídeo Único / Glicogênio Fosforilase Hepática Tipo de estudo: Observational_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male / Newborn País/Região como assunto: Asia Idioma: En Revista: J Mol Diagn Ano de publicação: 2020 Tipo de documento: Article