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Article

Identification of Promotor and Exonic Variations, and Functional Characterization of a Splice Site Mutation in Indian Patients with Unconjugated Hyperbilirubinemia.

PloS one - 1 Jan 2015

Gupta Neha, Benjamin Mercilena, Kar Anjana, Munjal Sachin Dev, Sarangi Aditya N, Dalal Ashwin, Aggarwal Rakesh

Abstract excerpt

BACKGROUND: Mild unconjugated hyperbilirubinemia (UH), due to reduced activity of the enzyme uridine diphosphoglucuronate-glucuronosyltransferase family, polypeptide 1 (UGT1A1), is a common clinical condition. Most cases are caused by presence in homozygous form of an A(TA)7TAA nucleotide sequence instead of the usual A(TA)6TAA sequence in promoter region of the UGT1A1 gene. In some cases, other genetic...

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Identifiers

PMID: 26716871
DOI: 10.1371/journal.pone.0145967
PMCID: PMC4696816

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