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Volumn 64, Issue 2, 1996, Pages 293-295

Deletion in the FMR1 gene in a fragile-X male

Author keywords

deletion; mental retardation; mosaicism

Indexed keywords

GENE PRODUCT;

EID: 0029897172     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960809)64:2<293::AID-AJMG12>3.0.CO;2-A     Document Type: Article
Times cited : (23)

References (20)
  • 1
    • 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
  • 9
    • 0014517848 scopus 로고
    • A marker X chromosome
    • Lubs HA (1969): A marker X chromosome. Am J Hum Genet 21: 231-244.
    • (1969) Am J Hum Genet , vol.21 , pp. 231-244
    • Lubs, H.A.1
  • 14
    • 0027489281 scopus 로고
    • An extensive de novo deletion removing FMR1 in a patient with mental retardation and the Fragile-X syndrome phenotype
    • Tarleton J, Richie R, Schwartz C, Rao K, Aylsworth AS, Lachiewicz A (1993): An extensive de novo deletion removing FMR1 in a patient with mental retardation and the Fragile-X syndrome phenotype. Hum Mol Genet 2:1973-1974.
    • (1993) Hum Mol Genet , vol.2 , pp. 1973-1974
    • Tarleton, J.1    Richie, R.2    Schwartz, C.3    Rao, K.4    Aylsworth, A.S.5    Lachiewicz, A.6
  • 15
    • 0028239232 scopus 로고
    • Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 10 kb of upstream region
    • Trottier Y, Imbert G, Poutska A, Fryns J-P, Mandel J-L (1994): Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 10 kb of upstream region. Am J Med Genet 51: 454-457.
    • (1994) Am J Med Genet , vol.51 , pp. 454-457
    • Trottier, Y.1    Imbert, G.2    Poutska, A.3    Fryns, J.-P.4    Mandel, J.-L.5
  • 18
    • 0022595514 scopus 로고
    • Population incidence and segregation ratios in the Martin-Bell syndrome
    • Webb TP, Bundey SE, Thake AI, Todd J (1986): Population incidence and segregation ratios in the Martin-Bell syndrome. Am J Med Genet 23:573-580.
    • (1986) Am J Med Genet , vol.23 , pp. 573-580
    • Webb, T.P.1    Bundey, S.E.2    Thake, A.I.3    Todd, J.4
  • 19
    • 0026781016 scopus 로고
    • A microdeletion of less than 250 kb, including the proximal part of the FMR1 gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome
    • Wohrle D, Kotzot D, Hirst MC, Manca A, Korn B, Schmidt A, Barbi G, Rott HD, Poutska A, Davies KE, Steinbach P (1992): A microdeletion of less than 250 kb, including the proximal part of the FMR1 gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome. Am J Hum Genet 51:299-306.
    • (1992) Am J Hum Genet , vol.51 , pp. 299-306
    • Wohrle, D.1    Kotzot, D.2    Hirst, M.C.3    Manca, A.4    Korn, B.5    Schmidt, A.6    Barbi, G.7    Rott, H.D.8    Poutska, A.9    Davies, K.E.10    Steinbach, P.11


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.