Characterization of GJB2 cis-regulatory elements in the DFNB1 locus
Abstract
Although most disease-causing variants are within coding region of genes, it is now well established that cis-acting regulatory sequences, depending on 3D-chromatin organization, are required for temporal and spatial control of gene expression. Disruptions of such regulatory elements and/or chromatin conformation are likely to play a critical role in human genetic disease. Hence, recurrent monoallelic cases, who present the most common...
Paper Details
Title
Characterization of GJB2 cis-regulatory elements in the DFNB1 locus
Published Date
Oct 4, 2019
Journal
Volume
138
Issue
11-12
Pages
1275 - 1286
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