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Volumn 54, Issue 2, 2000, Pages 488-490

Identification of new and common mutations in the EPM2A gene in Lafora disease

Author keywords

Epilepsy; EPM2A Laforin; EPM2B; Lafora disease; Mutation

Indexed keywords

ARTICLE; CHROMOSOME 6Q; GENE MUTATION; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMAN; MYOCLONUS EPILEPSY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

EID: 0034711737     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.54.2.488     Document Type: Article
Times cited : (38)

References (10)
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  • 2
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  • 4
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    • Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy
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    • Minassian, B.A.1    Lee, J.R.2    Herbrick, J.A.3
  • 5
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    • A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)
    • Serratosa JM, Gomez-Garre P, Gallardo ME, et al. A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2). Hum Mol Genet 1999;8:345-352.
    • (1999) Hum Mol Genet , vol.8 , pp. 345-352
    • Serratosa, J.M.1    Gomez-Garre, P.2    Gallardo, M.E.3
  • 6
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    • Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1
    • Lafreniere RG, Rochefort DL, Chretien N, et al. Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1. Nat Genet 1997;15:298-302.
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    • Lafreniere, R.G.1    Rochefort, D.L.2    Chretien, N.3
  • 7
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    • June 13-16, 1998; Dallas, TX
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  • 8
    • 0032965666 scopus 로고    scopus 로고
    • Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy
    • Minassian BA, Sainz J, Serratosa JM, et al. Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy. Ann Neurol 1999;45:262-265.
    • (1999) Ann Neurol , vol.45 , pp. 262-265
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  • 9
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  • 10
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    • A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.