Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia
Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia
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DOI：
10.3324/haematol.10585
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发表时间：
2007-01-01
期刊：
影响因子：
--
通讯作者：
Iolascon, Achille
中科院分区：
文献类型：
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作者：
D'Apolito, Maria;Marrone, Agnese;Iolascon, Achille
本研究的目的是确定11例诊断为新生儿非结合型高胆红素血症的UGT 1A1基因的新致病变异。我们描述了两种情况下，在临床上不明显的杂合突变UGT1A1基因可能会变得明显结合某些环境条件或其他遗传缺陷。
The aim of this study was to identify new pathogenic variations of the UGT1A1 gene in 11 patients diagnosed with neonatal unconjugated hyperbilirubinemia. We describe two cases in which clinically unapparent heterozygotic mutations in the UGT1A1 gene may become evident in combination with certain environmental conditions or additional genetic defects.