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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 BS, Ghosh SS, Lowenheim M, Chowdhury A, Chowdhury S, Santra A, Arias IM, Chowdhury JR, Chowdhury NR. Kadakol A, et al. Among authors: lowenheim m. J Med Genet. 2001 Apr;38(4):244-9. doi: 10.1136/jmg.38.4.244. J Med Genet. 2001. PMID: 11370628 Free PMC article. No abstract available.