Condition: ORTHOSTATIC HYPOTENSION 1
rs267606760 in
DBH gene and
ORTHOSTATIC HYPOTENSION 1
PMID 11857564 2002 Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency.
PMID 21209083 2011 Norepinephrine deficiency is caused by combined abnormal mRNA processing and defective protein trafficking of dopamine beta-hydroxylase.
PMID 21471955 2011 Neurocognitive function in dopamine-β-hydroxylase deficiency.
PMID 14598346 2003 A revised allele frequency estimate and haplotype analysis of the DBH deficiency mutation IVS1+2T --> C in African- and European-Americans.
PMID 27778639 2017 Hyperinsulinemia and Insulin Resistance in Dopamine β-Hydroxylase Deficiency.
PMID 15060114 2004 DBH gene variants that cause low plasma dopamine beta hydroxylase with or without a severe orthostatic syndrome.