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Volumn 57, Issue 5, 1997, Pages 828-831

A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALU SEQUENCE; ARTICLE; BREAST CANCER; CANCER FAMILY; CLINICAL ARTICLE; FEMALE; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; GERM LINE; HUMAN; HUMAN CELL; OVARY CANCER; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0031035045     PISSN: 00085472     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (155)

References (17)
  • 11
    • 0028863564 scopus 로고
    • Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families
    • Friedman, L. S., Szabo, C. I., Ostermeyer, E. A., Dowd, P., Butler, L., Park, T., Lee, M. K., Goode, E. L., Rowell, S. E., and King, M. C. Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families. Am. J. Hum. Genet., 57: 1284-1297, 1995.
    • (1995) Am. J. Hum. Genet. , vol.57 , pp. 1284-1297
    • Friedman, L.S.1    Szabo, C.I.2    Ostermeyer, E.A.3    Dowd, P.4    Butler, L.5    Park, T.6    Lee, M.K.7    Goode, E.L.8    Rowell, S.E.9    King, M.C.10
  • 13
    • 0029835707 scopus 로고    scopus 로고
    • Defects in RNA splicing and the consequence of shortened translational reading frames
    • Maquat, L. E. Defects in RNA splicing and the consequence of shortened translational reading frames. Am. J. Hum. Genet., 59: 279-286, 1996.
    • (1996) Am. J. Hum. Genet. , vol.59 , pp. 279-286
    • Maquat, L.E.1
  • 14
    • 0021918948 scopus 로고
    • Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains
    • Lehrman, M. A., Schneider, W. J., Sudhof, T. C., Brown, M. S., Goldstein, J. L., and Russell, D. W. Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains. Science (Washington DC), 227: 140-146, 1985.
    • (1985) Science (Washington DC) , vol.227 , pp. 140-146
    • Lehrman, M.A.1    Schneider, W.J.2    Sudhof, T.C.3    Brown, M.S.4    Goldstein, J.L.5    Russell, D.W.6
  • 16
    • 0028967353 scopus 로고
    • One short well-conserved region of Alu sequences is involved in human gene rearrangements and has homology with prokaryotic Χ
    • Rüdiger, N. S., Gregersen, N., and Kiellend-Brandt, M. C. One short well-conserved region of Alu sequences is involved in human gene rearrangements and has homology with prokaryotic Χ. Nucleic Acids Res., 23: 256-260, 1995.
    • (1995) Nucleic Acids Res. , vol.23 , pp. 256-260
    • Rüdiger, N.S.1    Gregersen, N.2    Kiellend-Brandt, M.C.3
  • 17
    • 0029804093 scopus 로고    scopus 로고
    • Complete genomic sequence arid analysis of 117 kb of human DNA containing the gene BRCA1
    • Smith, T. M., Lee, M. K., Szabo, C. I., Jerome, N., McEuen, M., Taylor, M., Hood, L., and King, M. C. Complete genomic sequence arid analysis of 117 kb of human DNA containing the gene BRCA1 Genome Res., 6: 1029-1049, 1996.
    • (1996) Genome Res. , vol.6 , pp. 1029-1049
    • Smith, T.M.1    Lee, M.K.2    Szabo, C.I.3    Jerome, N.4    McEuen, M.5    Taylor, M.6    Hood, L.7    King, M.C.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.