期刊
MOLECULAR GENETICS AND METABOLISM
卷 99, 期 4, 页码 431-433出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2009.12.011
关键词
CSF neurotransmitters; Dopa-responsive dystonia; Homovanillic acid; Hong Kong Chinese; Mutational analysis; Tyrosine hydroxylase deficiency
Tyrosine hydroxylase deficiency is a are 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. (C) 2009 Elsevier Inc. All rights reserved.
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