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Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis.
Luan, Weisha; Hao, Chen-Zhi; Li, Jia-Qi; Wei, Qing; Gong, Jing-Yu; Qiu, Yi-Ling; Lu, Yi; Shen, Cong-Huan; Xia, Qiang; Xie, Xin-Bao; Zhang, Mei-Hong; Abuduxikuer, Kuerbanjiang; Li, Zhong-Die; Wang, Li; Xing, Qing-He; Knisely, A S; Wang, Jian-She.
Afiliação
  • Luan W; Department of Pediatrics, Jinshan Hospital of Fudan University, Shanghai, China.
  • Hao CZ; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.
  • Li JQ; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.
  • Wei Q; Department of Pediatrics, Jinshan Hospital of Fudan University, Shanghai, China.
  • Gong JY; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.
  • Qiu YL; Laboratory for Reproductive Health, Institute of Biomedicine and Biotechnology, Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen, Guangdong, China.
  • Lu Y; Department of Pediatrics, Jinshan Hospital of Fudan University, Shanghai, China.
  • Shen CH; Department of Pediatrics, Jinshan Hospital of Fudan University, Shanghai, China.
  • Xia Q; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.
  • Xie XB; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.
  • Zhang MH; Department of Surgery, Huashan Hospital Affiliated to Fudan University, Shanghai, China.
  • Abuduxikuer K; Department of Liver Surgery and Liver Transplantation Center, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
  • Li ZD; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.
  • Wang L; Department of Pediatrics, Jinshan Hospital of Fudan University, Shanghai, China.
  • Xing QH; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.
  • Knisely AS; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.
  • Wang JS; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.
J Med Genet ; 58(8): 514-525, 2021 08.
Article em En | MEDLINE | ID: mdl-32737136
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Colangite Esclerosante / Colestase Intra-Hepática / Proteínas Oncogênicas / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans 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 Assunto principal: Colangite Esclerosante / Colestase Intra-Hepática / Proteínas Oncogênicas / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article