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Genetic analysis and functional study of a novel ABCG5 mutation in sitosterolemia with hematologic disease.
Jiang, Wanzi; Xu, Yiwen; Fu, Zhenzhen; Hu, Moran; Wu, Qinyi; Ji, Yong; Li, John Zhong; Gong, Yingyun; Zhou, Hongwen.
Afiliación
  • Jiang W; Department of Endocrinology and Metabolism, The First Affiliated Hospital of Nanjing Medical University and Jiangsu Province Hospital, Nanjing, China.
  • Xu Y; Department of Endocrinology and Metabolism, The First Affiliated Hospital of Nanjing Medical University and Jiangsu Province Hospital, Nanjing, China.
  • Fu Z; Department of Endocrinology and Metabolism, The First Affiliated Hospital of Nanjing Medical University and Jiangsu Province Hospital, Nanjing, China.
  • Hu M; Department of Endocrinology and Metabolism, The First Affiliated Hospital of Nanjing Medical University and Jiangsu Province Hospital, Nanjing, China.
  • Wu Q; Department of Endocrinology and Metabolism, The First Affiliated Hospital of Nanjing Medical University and Jiangsu Province Hospital, Nanjing, China.
  • Ji Y; Key Laboratory of Cardiovascular and Cerebrovascular Medicine, Key Laboratory of Targeted Intervention of Cardiovascular Disease, Collaborative Innovation Center for Cardiovascular Disease Translational Medicine, State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, Chi
  • Li JZ; The Key Laboratory of Rare Metabolic Disease, Department of Biochemistry and Molecular Biology, The Key Laboratory of Human Functional Genomics of Jiangsu Province, Key Laboratory of Targeted Intervention of Cardiovascular Disease, Collaborative Innovation Center for Cardiovascular Disease Translati
  • Gong Y; Department of Endocrinology and Metabolism, The First Affiliated Hospital of Nanjing Medical University and Jiangsu Province Hospital, Nanjing, China. Electronic address: gongyingyun@njmu.edu.cn.
  • Zhou H; Department of Endocrinology and Metabolism, The First Affiliated Hospital of Nanjing Medical University and Jiangsu Province Hospital, Nanjing, China. Electronic address: drhongwenzhou@njmu.edu.cn.
Gene ; 879: 147596, 2023 Aug 30.
Article en En | MEDLINE | ID: mdl-37390873

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fitosteroles / Trombocitopenia / Hipercolesterolemia / Errores Innatos del Metabolismo Lipídico Tipo de estudio: Guideline Límite: Adult / Female / Humans Idioma: En Revista: Gene Año: 2023 Tipo del documento: Article País de afiliación: China

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fitosteroles / Trombocitopenia / Hipercolesterolemia / Errores Innatos del Metabolismo Lipídico Tipo de estudio: Guideline Límite: Adult / Female / Humans Idioma: En Revista: Gene Año: 2023 Tipo del documento: Article País de afiliación: China