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Article

Cis-regulatory mutations in human disease.

Briefings in functional genomics & proteomics - 1 Jul 2009

Epstein Douglas J

Abstract excerpt

Cis-acting regulatory sequences are required for the proper temporal and spatial control of gene expression. Variation in gene expression is highly heritable and a significant determinant of human disease susceptibility. The diversity of human genetic diseases attributed, in whole or in part, to...

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Identifiers

PMID: 19641089
DOI: 10.1093/bfgp/elp021
PMCID: PMC2742803

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19641089-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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