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Volumn 52, Issue 1, 1999, Pages 182-184

Mutant GTP cyclohydrolase I in autosomal dominant dystonia and recessive hyperphenylalaninemia

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DOPA; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; MUTANT PROTEIN;

EID: 0032957414     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.52.1.182     Document Type: Article
Times cited : (18)

References (10)
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  • 2
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    • Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
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    • Ichinose, H.1    Ohye, T.2    Takahashi, E.3
  • 3
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    • Mutant GTP cyclohydrolase I mRNA levels contribute to doparesponsive dystonia onset
    • Hirano M, Tamaru Y, Ito H, Matsumoto S, Imai T, Ueno S. Mutant GTP cyclohydrolase I mRNA levels contribute to doparesponsive dystonia onset. Ann Neurol 1996;40:796-798.
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  • 4
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    • Differential splicing of the GTP cyclohydrolase I RNA in dopa-responsive dystonia
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  • 5
    • 0031956871 scopus 로고    scopus 로고
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    • Tamaru Y, Hirano M, Ito H, et al. Clinical similarities of hereditary progressive/dopa responsive dystonia caused by different types of mutations in the GTP cyclohydrolase I gene. J Neurol Neurosurg Psychiatry 1998;64:469-473.
    • (1998) J Neurol Neurosurg Psychiatry , vol.64 , pp. 469-473
    • Tamaru, Y.1    Hirano, M.2    Ito, H.3
  • 6
    • 0031946723 scopus 로고    scopus 로고
    • Reduced lymphoblast neopterin detects GTP cyclohydrolase dysfunction in dopa-responsive dystonia
    • Bezin L, Nygaard TG, Neville JD, Shen H, Levine RA. Reduced lymphoblast neopterin detects GTP cyclohydrolase dysfunction in dopa-responsive dystonia. Neurology 1998;50: 1021-1027.
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  • 7
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    • A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening program
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    • Blau, N.1    Ichinose, H.2    Nagatsu, T.3    Heizmann, C.W.4    Zacchello, F.5    Burlina, A.B.6
  • 8
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.