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Article

A rare novel deletion of the tyrosine hydroxylase gene in Parkinson disease.

Human mutation - 1 Oct 2010

Bademci Güney, Edwards Todd L, Torres Andre L, Scott William K, Züchner Stephan, Martin Eden R, Vance Jeffery M, Wang Liyong

Abstract excerpt

Tyrosine hydroxylase (TH) enzyme is a rate limiting enzyme in dopamine biosynthesis. Missense mutation in both alleles of the TH gene is known to cause dopamine-related phenotypes, including dystonia and infantile Parkinsonism. However, it is not clear if single allele mutation in TH modifies the...

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Identifiers

PMID: 20809526
DOI: 10.1002/humu.21351
PMCID: PMC3025121

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-20809526-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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