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Article

Deep sequencing identifies novel regulatory variants in the distal promoter region of the dopamine-β-hydroxylase gene.

Pharmacogenetics and genomics - 1 Jul 2016

Punchaichira Toyanji J, Prasad Suman, Deshpande Smita N, Thelma B K

Abstract excerpt

OBJECTIVE: Dopamine-β-hydroxylase (DBH), an enzyme that converts dopamine into norepinephrine, is a drug target in cardiovascular and neuropsychiatric disorders. We aimed to identify functional variants in this gene by deep sequencing and enzyme phenotyping in an Indian cohort. MATERIALS AND METHODS: Targeted resequencing of 12 exons and 10 kb upstream sequences of DBH in healthy volunteers (n=50) was performed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Expression Regulation, Enzymologic

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Share to Linkage Disequilibrium

Share to Promoter Regions, Genetic

Share to Regulatory Elements, Transcriptional

Source

Identifiers

PMID: 26959714
DOI: 10.1097/FPC.0000000000000214

Genes

DBH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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