Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia.
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D'Apolito M, Marrone A, Servedio V, Vajro P, De Falco L, Iolascon A
Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia.
Haematologica. 2007 Jan;92(1):133-4.
- PubMed ID
- 17229650 [ View in PubMed]
- Abstract
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.