Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia
oleh: Maria D’Apolito, Agnese Marrone, Veronica Servedio, Pietro Vajro, Luigia De Falco, Achille Iolascon
| Format: | Article |
|---|---|
| Diterbitkan: | Ferrata Storti Foundation 2007-01-01 |
Deskripsi
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.