Article
A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes I: general principles and overview.
Human genetics - 1 Aug 2006
Chen Jian-Min, Férec Claude, Cooper David N
Abstract excerpt
The 3' regulatory regions (3' RRs) of human genes play an important role in regulating mRNA 3' end formation, stability/degradation, nuclear export, subcellular localization and translation and are consequently rich in regulatory elements. Although 3' RRs contain only approximately 0.2% of known disease-associated mutations, this is likely to represent a rather conservative estimate of their actual prevalence. In...
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