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)(7)TAA nucleotide sequence...

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發表在:PLoS One
Main Authors: Gupta, Neha, Benjamin, Mercilena, Kar, Anjana, Munjal, Sachin Dev, Sarangi, Aditya N., Dalal, Ashwin, Aggarwal, Rakesh
格式: Artigo
語言:Inglês
出版: Public Library of Science 2015
主題:
Research Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4696816/
https://ncbi.nlm.nih.gov/pubmed/26716871
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0145967
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