메뉴 건너뛰기




Volumn 104, Issue 2, 2001, Pages 97-100

Recombination breakpoints in the Charcot-Marie-Tooth 1A repeat sequence in Norwegian families

Author keywords

1.5 Mb duplication; Charcot Marie Tooth; CMT1A; CMT1A REP repeats; REP PCR

Indexed keywords

REPETITIVE DNA;

EID: 0034775701     PISSN: 00016314     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0404.2001.104002097.x     Document Type: Article
Times cited : (4)

References (21)
  • 1
    • 0016266593 scopus 로고
    • Genetic and clinical aspects of Charcot-Marie-Tooth's disease
    • (1974) Clin Genet , vol.6 , Issue.2 , pp. 98-118
    • Skre, H.1
  • 6
    • 0026879615 scopus 로고
    • The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication
    • published erratum appears in Nat Genet 1992;2(1):84
    • (1992) Nat Genet , vol.1 , Issue.3 , pp. 171-175
    • Timmerman, V.1    Nelis, E.2    Van Hul, W.3
  • 11
    • 0029962292 scopus 로고    scopus 로고
    • A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element
    • (1996) Nat Genet , vol.12 , Issue.3 , pp. 288-297
    • Reiter, L.T.1    Murakami, T.2    Koeuth, T.3
  • 14
    • 0029989649 scopus 로고    scopus 로고
    • Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: New tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A
    • French CMT Collaborative Research Group
    • (1996) Am J Hum Genet , vol.58 , Issue.2 , pp. 1223-1230
    • Lopes, J.1    Leguern, E.2    Gouider, R.3
  • 20
    • 0034531151 scopus 로고    scopus 로고
    • Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies
    • (2000) Hum Genet , vol.107 , Issue.5 , pp. 494-498
    • Aarskog, N.K.1    Vedeler, C.A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.