Biochemical and Molecular Characterization of Tyrosine Hydroxylase Deficiency in Hong Kong Chinese
Molecular genetics and metabolism(2010)
摘要
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.
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关键词
CSF neurotransmitters,Dopa-responsive dystonia,Homovanillic acid,Hong Kong Chinese,Mutational analysis,Tyrosine hydroxylase deficiency
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