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Article

Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency.

American journal of medical genetics - 1 Mar 2002

Kim Chun-Hyung, Zabetian Cyrus P, Cubells Joseph F, Cho Sonhae, Biaggioni Italo, Cohen Bruce M, Robertson David, Kim Kwang-Soo

Abstract excerpt

Norepinephrine (NE), a key neurotransmitter of the central and peripheral nervous systems, is synthesized by dopamine beta-hydroxylase (DBH) that catalyzes oxidation of dopamine (DA) to NE. NE deficiency is a congenital disorder of unknown etiology, in which affected patients suffer profound autonomic failure. Biochemical features of the syndrome include undetectable tissue and circulating levels of NE and...

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PMID: 11857564

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DBH

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

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