메뉴 건너뛰기




Volumn 62, Issue 5, 1997, Pages 535-537

Maternal transmission in sporadic Huntington's disease

Author keywords

Huntington's disease; IT15 gene; Sporadic case

Indexed keywords

ADULT; ALLELE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; EXTRACHROMOSOMAL INHERITANCE; FAMILY STUDY; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; HUMAN; HUNTINGTON CHOREA; MALE; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

EID: 0030949049     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.62.5.535     Document Type: Article
Times cited : (16)

References (9)
  • 1
    • 0027378051 scopus 로고
    • Dynamic mutations in Dutch Huntington's disease patients: Increased paternal repeat instability extending to within the normal size range
    • De Rooij KE, De Koning Gans PA, Skraastad MI, Belfroid RD, Vegter-van der Vlis M, Roos RAC, et al. Dynamic mutations in Dutch Huntington's disease patients: increased paternal repeat instability extending to within the normal size range. J Med Genet 1993;30:996-1002.
    • (1993) J Med Genet , vol.30 , pp. 996-1002
    • De Rooij, K.E.1    De Koning Gans, P.A.2    Skraastad, M.I.3    Belfroid, R.D.4    Vegter-van Der Vlis, M.5    Roos, R.A.C.6
  • 2
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
    • Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993;72:971-83.
    • (1993) Cell , vol.72 , pp. 971-983
  • 4
    • 0027359989 scopus 로고
    • Molecular basis of new mutations for Huntington's disease: Intermediate alleles and sex origin effects
    • Goldberg YP, Kremer B, Andrew SE, Theilmann J, Graham RK, Squitieri F, et al. Molecular basis of new mutations for Huntington's disease: intermediate alleles and sex origin effects. Nature Genet 1993;5:174-9.
    • (1993) Nature Genet , vol.5 , pp. 174-179
    • Goldberg, Y.P.1    Kremer, B.2    Andrew, S.E.3    Theilmann, J.4    Graham, R.K.5    Squitieri, F.6
  • 6
    • 0028107864 scopus 로고
    • Mutation analysis in patients with possible but apparently sporadic Huntington's disease
    • Davis MB, Bateman D, Quinn NP, Marsden CD and Harding AE. Mutation analysis in patients with possible but apparently sporadic Huntington's disease. Lancet 1994;344:714-7.
    • (1994) Lancet , vol.344 , pp. 714-717
    • Davis, M.B.1    Bateman, D.2    Quinn, N.P.3    Marsden, C.D.4    Harding, A.E.5
  • 7
    • 0028470671 scopus 로고
    • Guidelines for the molecular genetic predictive test in Huntington's disease
    • International Huntington Association (IHA) and the World Federation of Neurology (WFN) Research Group on Huntington's Chorea. Guidelines for the molecular genetic predictive test in Huntington's disease. J Med Ginet 1994;31:555-9.
    • (1994) J Med Ginet , vol.31 , pp. 555-559
  • 8
    • 0027519511 scopus 로고
    • Analysis of the Huntington gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat number
    • Rubinsztein DC, Barton DE, Davison BCC and Ferguson-Smith MA. Analysis of the Huntington gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat number. Hum Mol Genet 1993;2: 1713-5.
    • (1993) Hum Mol Genet , vol.2 , pp. 1713-1715
    • Rubinsztein, D.C.1    Barton, D.E.2    Davison, B.C.C.3    Ferguson-Smith, M.A.4
  • 9
    • 0027415829 scopus 로고
    • Genetic variation of microsatellite markers D1S117, D6S89, D11S35, APOC2 and D21S168
    • Fuentes JJ, Banchs MI, Volpini V and Estivill X. Genetic variation of microsatellite markers D1S117, D6S89, D11S35, APOC2 and D21S168. Int J Legal Med 1993; 105:271-7.
    • (1993) Int J Legal Med , vol.105 , pp. 271-277
    • Fuentes, J.J.1    Banchs, M.I.2    Volpini, V.3    Estivill, X.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.