Deep sequencing identifies novel regulatory variants in the distal promoter region of the dopamine-&bgr;-hydroxylase gene

@article{Punchaichira2016DeepSI,
  title={Deep sequencing identifies novel regulatory variants in the distal promoter region of the dopamine-\&bgr;-hydroxylase gene},
  author={Toyanji Joseph Punchaichira and Suman Prasad and Smita Neelkanth Deshpande and B. K. Thelma},
  journal={Pharmacogenetics and Genomics},
  year={2016},
  volume={26},
  pages={311–323}
}
Objective Dopamine-&bgr;-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 using the Ion Personal Genome Machine System. Enzyme quantity and activity in… 

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