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A novel variant in the FBP1 gene causes fructose-1,6-bisphosphatase deficiency through increased ubiquitination.
Liang, Xiaoyan; Liu, Xiaoliang; Li, Wenjing; Zhang, Lu; Zhang, Bijun; Lai, Guangrui; Zhao, Yanyan.
Afiliación
  • Liang X; Department of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang, 110004, China; Department of Central Laboratory, Binzhou People's Hospital, Shandong, 256600, China.
  • Liu X; Department of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang, 110004, China.
  • Li W; Department of Cardiology, Binzhou People's Hospital, Shandong, 256600, China.
  • Zhang L; Department of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang, 110004, China.
  • Zhang B; Department of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang, 110004, China.
  • Lai G; Department of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang, 110004, China.
  • Zhao Y; Department of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang, 110004, China. Electronic address: yyzhao@sj-hospital.org.
Arch Biochem Biophys ; 742: 109619, 2023 07 01.
Article en En | MEDLINE | ID: mdl-37142076
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Deficiencia de Fructosa-1,6-Difosfatasa / Fructosa-Bifosfatasa Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Animals / Child / Humans / Male Idioma: En Revista: Arch Biochem Biophys 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: Deficiencia de Fructosa-1,6-Difosfatasa / Fructosa-Bifosfatasa Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Animals / Child / Humans / Male Idioma: En Revista: Arch Biochem Biophys Año: 2023 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos