GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation.
作者信息
Ichinose H, Ohye T, Segawa M, Nomura Y, Endo K, Tanaka H, Tsuji S, Fujita K, Nagatsu T
机构信息
Institute for Comprehensive Medical Science, School of Medicine, Fujita Health University, Aichi, Japan.
出版信息
Neurosci Lett. 1995 Aug 18;196(1-2):5-8. doi: 10.1016/0304-3940(95)11820-m.
PMID:7501255
Abstract
We previously reported four different mutations in the coding region of GTP cyclohydrolase I (GCH-I) gene in patients with hereditary progressive dystonia with marked diurnal fluctuation (HPD). We found two independent new mutations (leucine 79 proline and a deletion in exon 4) in patients with HPD. We also found four families of HPD without any mutations in the coding region of GCH-I gene.
摘要
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