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Volumn 21, Issue 1, 2001, Pages 61-66

Japanese familial amyotrophic lateral sclerosis family with a two-base deletion in the superoxide dismutase-1 gene

Author keywords

Deletion; Frameshift; Insertion; Nonsense; Truncated protein

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE;

EID: 0035068562     PISSN: 09196544     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1440-1789.2001.00360.x     Document Type: Article
Times cited : (6)

References (23)
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    • A clinicopathological study of a patient with familial amyotrophic lateral sclerosis associated with a two base pair deletion in the copper/zinc superoxide dismutase (SOD1) gene
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    • Kadekawa, J.1    Fujimura, H.2    Ogawa, Y.3
  • 13
    • 0032553346 scopus 로고    scopus 로고
    • Formation of granular cytoplasmic aggregates in COS7 cells expressing mutant Cu/Zn superoxide dismutase associated with familial amyotrophic lateral sclerosis
    • (1998) Neurosci Lett , vol.257 , pp. 29-32
    • Koide, T.1    Igarashi, S.2    Kikugawa, K.3
  • 15
    • 0031128772 scopus 로고    scopus 로고
    • Exon 5 encoded domain is not required for the toxic function of mutant SOD1 but essential for the dismutase activity: Identification and characterization of two new SOD1 mutations associated with familial amyotrophic lateral sclerosis
    • (1997) Neurogenetics , vol.1 , pp. 65-71
    • Zu, J.S.1    Deng, H.X.2    Lo, T.P.3
  • 17
    • 0030945491 scopus 로고    scopus 로고
    • Clinical and functional investigation of 10 missense mutations and a novel frameshift insertion mutation of the gene for copper-zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis
    • (1997) Neurology , vol.48 , pp. 746-751
    • Orrell, R.W.1    Habgood, J.J.2    Gardiner, I.3
  • 23
    • 0031728550 scopus 로고    scopus 로고
    • SOD1 aggregates in ALS cause, correlate or consequence?
    • (1998) Nat Med , vol.4 , pp. 1362-1364
    • Brown, R.H.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.