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Volumn 62, Issue 4, 1998, Pages 842-847

A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; GENETIC STABILITY; HUMAN; MYOCLONUS EPILEPSY; NUCLEOTIDE REPEAT; ONSET AGE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 17344372332     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301798     Document Type: Article
Times cited : (61)

References (18)
  • 1
    • 0029584496 scopus 로고
    • Trinucleotide repeat expansion and human disease
    • Ashley CT, Warren ST (1995) Trinucleotide repeat expansion and human disease. Annu Rev Genet 29:703-728
    • (1995) Annu Rev Genet , vol.29 , pp. 703-728
    • Ashley, C.T.1    Warren, S.T.2
  • 3
    • 0028365522 scopus 로고
    • Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase
    • Chong SS, Eichler EE, Nelson DL, Hughes MR (1994) Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase. Am J Med Genet 51:522-526
    • (1994) Am J Med Genet , vol.51 , pp. 522-526
    • Chong, S.S.1    Eichler, E.E.2    Nelson, D.L.3    Hughes, M.R.4
  • 5
    • 0031034894 scopus 로고    scopus 로고
    • Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1
    • Lafrenière RG, Rochefort DL, Chrétien N, Rommens JM, Cochius JI, Kälviäinen R, Nousiainen U, et al (1997) 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 15:298-302
    • (1997) Nat Genet , vol.15 , pp. 298-302
    • Lafrenière, R.G.1    Rochefort, D.L.2    Chrétien, N.3    Rommens, J.M.4    Cochius, J.I.5    Kälviäinen, R.6    Nousiainen, U.7
  • 6
    • 16944365407 scopus 로고    scopus 로고
    • Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1)
    • Lalioti MD, Mirotsou M, Buresi C, Peitsch MC, Rossier C, Ouazzani R, Baldy-Moulinier M, et al (1997a) Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1). Am J Hum Genet 60:342-351
    • (1997) Am J Hum Genet , vol.60 , pp. 342-351
    • Lalioti, M.D.1    Mirotsou, M.2    Buresi, C.3    Peitsch, M.C.4    Rossier, C.5    Ouazzani, R.6    Baldy-Moulinier, M.7
  • 7
    • 0031228399 scopus 로고    scopus 로고
    • What is expanded in progressive myoclonus epilepsy?
    • Lalioti MD, Scott HS, Antonarakis SE (1997b) What is expanded in progressive myoclonus epilepsy? Nat Genet 17: 17
    • (1997) Nat Genet , vol.17 , pp. 17
    • Lalioti, M.D.1    Scott, H.S.2    Antonarakis, S.E.3
  • 9
    • 0030904035 scopus 로고    scopus 로고
    • Identification and sizing of the GAA trinucleotide repeat expansion of Friedreich's ataxia in 56 patients: Clinical and genetic correlates
    • Lamont PJ, Davis MB, Wood NW (1997) Identification and sizing of the GAA trinucleotide repeat expansion of Friedreich's ataxia in 56 patients: clinical and genetic correlates. Brain 120:673-680
    • (1997) Brain , vol.120 , pp. 673-680
    • Lamont, P.J.1    Davis, M.B.2    Wood, N.W.3
  • 12
  • 14
    • 0029968460 scopus 로고    scopus 로고
    • Trinucleotide repeats in neurogenetic disorders
    • Paulson HL, Fischbeck KH (1996) Trinucleotide repeats in neurogenetic disorders. Annu Rev Neurosci 19:79-107
    • (1996) Annu Rev Neurosci , vol.19 , pp. 79-107
    • Paulson, H.L.1    Fischbeck, K.H.2
  • 16
    • 0026767610 scopus 로고
    • Dynamic mutations: A new class of mutations causing human disease
    • Richards RI, Sutherland GR (1992) Dynamic mutations: a new class of mutations causing human disease. Cell 70:709-712
    • (1992) Cell , vol.70 , pp. 709-712
    • Richards, R.I.1    Sutherland, G.R.2
  • 17
    • 0025817602 scopus 로고
    • The cystatins: Protein inhibitors of cysteine proteinases
    • Turk V, Bode W (1991) The cystatins: protein inhibitors of cysteine proteinases. FEBS 285:213-219
    • (1991) FEBS , vol.285 , pp. 213-219
    • Turk, V.1    Bode, W.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.