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Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus.Kadakol A., Sappal B.S., Ghosh S.S., Lowenheim M., Chowdhury A., Chowdhury S., Santra A., Arias I.M., Chowdhury J.R., Chowdhury N.R.J. Med. Genet. 38:244-249(2001)
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Spectrum of UGT1A1 mutations in Crigler-Najjar (CN)
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Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia.D'Apolito M., Marrone A., Servedio V., Vajro P., De Falco L., Iolascon A.Haematologica 92:133-134(2007)
UGT1A1 gene mutations in Pakistani children suffering from inherited nonhemolytic unconjugated hyperbilirubinemias.Khan S., Irfan M., Sher G., Zubaida B., Alvi M.A., Yasinzai M., Naeem M.Ann. Hum. Genet. 77:482-487(2013)
Identification of a novel mutation in UDP-glucuronosyltransferase (UGT1A1)
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+Additional computationally mapped references. p>Provides general information on the entry.