| Literature DB >> 20056467 |
C M Mak1, C W Lam, T S Siu, K Y Chan, W K Siu, W L Yeung, J Hui, V C N Wong, L C K Low, C H Ko, C W Fung, S P Chen, Y P Yuen, H C Lee, E Yau, B Chan, S F Tong, S Tam, Y W Chan.
Abstract
Tyrosine hydroxylase deficiency is a rare neurotransmitter disorder affecting the rate-limiting step in catecholamine biosynthesis. There are about 40 cases reported worldwide. Here, we report the biochemical and molecular findings of eight unrelated Chinese patients with tyrosine hydroxylase deficiency. We have identified eight novel mutations with 5 missense, 2 nonsense and 1 splicing mutations in the TH gene, namely p.R153X, p.R169X, p.G294R, p.G315S, p.A385V, p.I394T, p.G408R, and c.1163+5G>C. The mutations of the TH gene in Chinese are heterogeneous. Copyright 2009 Elsevier Inc. All rights reserved.Entities:
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Year: 2009 PMID： 20056467 DOI： 10.1016/j.ymgme.2009.12.011
Source DB: PubMed Journal: Mol Genet Metab ISSN： 1096-7192 Impact factor: 4.797