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A novel UGT1A1 gene mutation causing severe unconjugated hyperbilirubinemia: a case report

机译：一种新的UGT1A1基因突变，导致严重无缀合的高胆管素血症：案例报告

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Xiaoxia Shi; Sem Aronson; Ahmed Sharif Khan; Piter J. Bosma;
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1. A novel UGT1A1 gene mutation causing severe unconjugated hyperbilirubinemia: a case report [J] . Xiaoxia Shi, Sem Aronson, Ahmed Sharif Khan, BMC Pediatrics . 2019,第1期

机译：一种新的UGT1A1基因突变，导致严重无缀合的高胆管素血症：案例报告
2. UGT1A1 gene mutations in Pakistani children suffering from inherited nonhemolytic unconjugated hyperbilirubinemias [J] . KhanS., IrfanM., SherG., Annals of Human Genetics . 2013,第6期

机译：遗传性非溶血性非结合性高胆红素血症的巴基斯坦儿童中UGT1A1基因突变
3. Comments on Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia by D’Apolito et al. | Haematologica [J] . Fran?ois M Petit, Marylise Hébert, Vincent Gajdos, Haematologica . 2007,第7期

机译：D’Apolito等对非结合型高胆红素血症患者中UGT1A1基因的七个新突变的评论。 |血液学
4. UGT1A1 gene mutation and hyperthyroidism combined with hepatic failure: case report and literature review [C] . Qianyu Yan, Jingyun Fu International Conference on Biological Information and Biomedical Engineering . 2019

机译：UGT1A1基因突变和甲状腺功能亢进结合肝衰竭：案例报告和文献综述
5. A Multi-Scale Computational Approach to Understand the Calcium Dynamics and Arrhythmogenic Disorders Caused by Mutations in RYR2/CASQ2 Expressing Genes [D] . Paudel, Roshan. 2020

机译：一种多规模的计算方法，了解Ryr2 / Casq2在表达基因中突变引起的钙动力学和心律发生障碍
6. A novel UGT1A1 gene mutation causing severe unconjugated hyperbilirubinemia: a case report [O] . Xiaoxia Shi, Sem Aronson, Ahmed Sharif Khan, 2019

机译：导致严重的未结合高胆红素血症的新型UGT1A1基因突变：病例报告
7. Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia [O] . D'APOLITO M, MARRONE A, SERVEDIO V, 2007

机译：非结合性高胆红素血症患者中UGT1a1基因的7个新突变

A novel UGT1A1 gene mutation causing severe unconjugated hyperbilirubinemia: a case report

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