GTP CYCLOHYDROLASE-I GENE IN HEREDITARY PROGRESSIVE DYSTONIA WITH MARKED DIURNAL FLUCTUATION

被引：42

作者：

ICHINOSE, H

OHYE, T

SEGAWA, M

NOMURA, Y

ENDO, K

TANAKA, H

TSUJI, S

FUJITA, K

NAGATSU, T

机构：

[1] SEGAWA NEUROL CLIN CHILDREN,TOKYO 101,JAPAN

[2] NIIGATA UNIV,BRAIN RES INST,DEPT NEUROL,NIIGATA 951,JAPAN

来源：

NEUROSCIENCE LETTERS | 1995年 / 196卷 / 1-2期

关键词：

HEREDITARY PROGRESSIVE DYSTONIA; DIURNAL FLUCTUATION; GTP CYCLOHYDROLASE I GENE;

D O I：

10.1016/0304-3940(95)11820-M

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

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.

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页码：5 / 8

页数：4

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