A novel point mutation in the GTP cyclohydrolase I gene in a Spanish family with hereditary progressive and dopa responsive dystonia

被引：23

作者：

Beyer, K ^{[1
]}

LaoVilladoniga, JI ^{[1
]}

VecinoBilbao, B ^{[1
]}

Cacabelos, R ^{[1
]}

delaFuenteFernandez, R ^{[1
]}

机构：

[1] EUROESPES BIOMED RES CTR,BASIC & CLIN NEUROSCI RES CTR,LA CORUNA,SPAIN

来源：

关键词：

D O I：

10.1136/jnnp.62.4.420

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：420 / 421

页数：2

共 3 条

[1] Dopa-responsive dystonia in British patients: New mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity
Bandmann, O
Nygaard, TG
Surtees, R
Marsden, CD
Wood, NW
Harding, AE
[J]. HUMAN MOLECULAR GENETICS, 1996, 5 (03) : 403 - 406
[2] HEREDITARY PROGRESSIVE DYSTONIA WITH MARKED DIURNAL FLUCTUATION CAUSED BY MUTATIONS IN THE GTP CYCLOHYDROLASE-I GENE
ICHINOSE, H
OHYE, T
TAKAHASHI, E
SEKI, N
HORI, T
SEGAWA, M
NOMURA, Y
ENDO, K
TANAKA, H
TSUJI, S
FUJITA, K
NAGATSU, T
[J]. NATURE GENETICS, 1994, 8 (03) : 236 - 242
[3] Nygaard TG, 1993, Hereditary progressive dystonia with marked diurnal fluctuation, P21