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

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

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 in...

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Bibliographic Details
Main Authors: Neha Gupta, Mercilena Benjamin, Anjana Kar, Sachin Dev Munjal, Aditya N Sarangi, Ashwin Dalal, Rakesh Aggarwal
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4696816?pdf=render

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http://europepmc.org/articles/PMC4696816?pdf=render

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