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 susceptibility to the adult form of Parkinson disease (PD). We reported a novel deletion of entire TH gene in an adult...
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