Gene symbol: GTP cyclohydrolase I (GCH-I). Disease: dopa-responsive dystonia.

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作者信息

Hui xie H, Wu Zhi-ying, Wang Ning, Murong Shen-Xing

机构信息

First Affiliated Hospital of Fumian Medical University, fuzhou, PR China.

出版信息

Hum Genet. 2005 Feb;116(3):235.

PMID:15818812

Abstract

摘要

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相似文献

Gene symbol: GTP cyclohydrolase I (GCH-I). Disease: dopa-responsive dystonia.

Hum Genet. 2005 Feb;116(3):235.

Gene symbol: GCH1. Disease: Dopa-responsive dystonia.

Hum Genet. 2004 Mar;114(4):403.

[Autosomal-dominant DOPA-responsive dystonia, caused by mutations in the GTP-cyclohydrolase I gene].

Vopr Med Khim. 1998 May-Jun;44(3):225-8.

Segawa disease with a novel heterozygous mutation in exon 5 of the GCH-1 gene (E183K).

Brain Dev. 2009 Feb;31(2):173-5. doi: 10.1016/j.braindev.2008.05.012. Epub 2008 Jul 14.

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Pediatr Neurol. 2008 May;38(5):367-9. doi: 10.1016/j.pediatrneurol.2008.01.012.

Dopa-responsive dystonia presenting as delayed and awkward gait.

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Mov Disord. 2005 Aug;20(8):1083-4. doi: 10.1002/mds.20490.

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Hum Genet. 2010 Apr;127(4):482.

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