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Recurrent AKR1D1 c.580-13T>A Variant: A Cause of Δ4-3-Oxosteroid-5ß-Reductase Deficiency.
Zhao, Jing; Qiu, Yi-Ling; Wang, Li; Li, Zhong-Die; Xie, Xin-Bao; Lu, Yi; Setchell, Kenneth D R; Cheng, Ye; Xing, Qing-He; Wang, Jian-She.
Afiliación
  • Zhao J; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.
  • Qiu YL; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.
  • Wang L; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.
  • Li ZD; 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.
  • Lu Y; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China.
  • Setchell KDR; Department of Pathology and Laboratory Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.
  • Cheng Y; Institutes of Biomedical Sciences, Fudan University, Shanghai, China.
  • Xing QH; Institutes of Biomedical Sciences, Fudan University, Shanghai, China.
  • Wang JS; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China; Shanghai Key Laboratory of Birth Defect, Shanghai, China. Electronic address: jshwang@shmu.edu.cn.
J Mol Diagn ; 25(4): 227-233, 2023 04.
Article en En | MEDLINE | ID: mdl-36739965
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ácidos y Sales Biliares / Enfermedades del Recién Nacido Límite: Humans / Infant / Newborn Idioma: En Revista: J Mol Diagn Asunto de la revista: BIOLOGIA MOLECULAR Año: 2023 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ácidos y Sales Biliares / Enfermedades del Recién Nacido Límite: Humans / Infant / Newborn Idioma: En Revista: J Mol Diagn Asunto de la revista: BIOLOGIA MOLECULAR Año: 2023 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos