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Article

Norepinephrine deficiency is caused by combined abnormal mRNA processing and defective protein trafficking of dopamine beta-hydroxylase.

The Journal of biological chemistry - 18 Mar 2011

Kim Chun-Hyung, Leung Amanda, Huh Yang Hoon, Yang Eungi, Kim Deog-Joong, Leblanc Pierre, Ryu Hoon, Kim Kyungjin, Kim Dong-Wook, Garland Emily M, Raj Satish R, Biaggioni Italo, Robertson David, Kim Kwang-Soo

Abstract excerpt

Human norepinephrine (NE) deficiency (or dopamine β-hydroxylase (DBH) deficiency) is a rare congenital disorder of primary autonomic failure, in which neurotransmitters NE and epinephrine are undetectable. Although potential pathogenic mutations, such as a common splice donor site mutation (IVS1+...

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Identifiers

PMID: 21209083
DOI: 10.1074/jbc.M110.192351
PMCID: PMC3059068

Genes

DBH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21209083-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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