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Article

Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase gene.

Human molecular genetics - 1 Dec 2016

Lee Ni-Chung, Lee Yu-May, Chen Pin-Wen, Byrne Barry J, Hwu Wuh-Liang

Abstract excerpt

Aromatic l-amino acid decarboxylase (AADC) deficiency is an inborn error of monoamine neurotransmitter synthesis, which results in dopamine, serotonin, epinephrine and norepinephrine deficiencies. The DDC gene founder mutation IVS6 + 4A > T is highly prevalent in Chinese patients with AADC deficiency. In this study, we designed several U1 snRNA vectors to adapt U1 snRNA binding sequences of the mutated DDC gene....

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Source

Identifiers

PMID: 27658936
DOI: 10.1093/hmg/ddw323

Genes

DDC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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