- Dopa-responsive Dystonia with a Novel Initiation Codon Mutation in the GCH1 Gene Misdiagnosed as Cerebral Palsy
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Lee JH, Ki CS, Kim DS, Cho JW, Park KP, Kim S
- KMID: 1779403
- J Korean Med Sci.
- 2011 Sep;26(9):1244-1246.
- doi: 10.3346/jkms.2011.26.9.1244
Dopa-responsive dystonia (DRD) is a clinical syndrome characterized by childhood-onset dystonia and a dramatic response to relatively low doses of levodopa. However, patients with DRD can be misdiagnosed as cerebral... -
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- Predisposition of genetic disease by modestly decreased expression of GCH1 mutant allele
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Kim YS, Choi YB, Lee JH, Yang SH, Cho JH, Shin CH, Lee SD, Paik MK, Hong KM
- KMID: 756328
- Exp Mol Med.
- 2008 Jun;40(3):271-275.
- doi: 10.3858/emm.2008.40.3.271
Recently it was shown that single nucleotide polymorphisms (SNPs) can explain individual variation because of the small changes of the gene expression level and that the 50% decreased expression of... -
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