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
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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
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页码:420 / 421
页数:2
相关论文
共 3 条
[1]   Dopa-responsive dystonia in British patients: New mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity [J].
Bandmann, O ;
Nygaard, TG ;
Surtees, R ;
Marsden, CD ;
Wood, NW ;
Harding, AE .
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 [J].
ICHINOSE, H ;
OHYE, T ;
TAKAHASHI, E ;
SEKI, N ;
HORI, T ;
SEGAWA, M ;
NOMURA, Y ;
ENDO, K ;
TANAKA, H ;
TSUJI, S ;
FUJITA, K ;
NAGATSU, T .
NATURE GENETICS, 1994, 8 (03) :236-242
[3]  
Nygaard TG, 1993, Hereditary progressive dystonia with marked diurnal fluctuation, P21