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Volumn 131, Issue 2, 2012, Pages 723-725

BRCA1 c.4987-3C>G is a pathogenic mutation

Author keywords

[No Author keywords available]

Indexed keywords

CONTROLLED STUDY; EX VIVO STUDY; EXON SKIPPING; GENE MUTATION; HELA CELL; HUMAN; INTRON; LETTER; ONCOGENE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA EXTRACTION; SEQUENCE ANALYSIS;

EID: 84856233421     PISSN: 01676806     EISSN: 15737217     Source Type: Journal    
DOI: 10.1007/s10549-011-1878-3     Document Type: Letter
Times cited : (3)

References (5)
  • 1
    • 80052598724 scopus 로고    scopus 로고
    • Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing
    • 10.1007/s10549-011-1599-7 21638052 10.1007/s10549-011-1599-7
    • RD Brandão K van Roozendaal D Tserpelis EG García MJ Blok 2011 Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing Breast Cancer Res Treat 129 3 971 982 10.1007/s10549-011-1599-7 21638052 10.1007/s10549-011-1599-7
    • (2011) Breast Cancer Res Treat , vol.129 , Issue.3 , pp. 971-982
    • Brandão, R.D.1    Van Roozendaal, K.2    Tserpelis, D.3    García, E.G.4    Blok, M.J.5
  • 2
    • 0029095308 scopus 로고
    • Increased exon-trapping efficiency through modifications to the pSPL3 splicing vector
    • 7665076 10.1016/0378-1119(95)00223-S 1:CAS:528:DyaK2MXnvFWhtb4%3D
    • TC Burn TD Connors KW Klinger GM Landes 1995 Increased exon-trapping efficiency through modifications to the pSPL3 splicing vector Gene 161 2 183 187 7665076 10.1016/0378-1119(95)00223-S 1:CAS:528:DyaK2MXnvFWhtb4%3D
    • (1995) Gene , vol.161 , Issue.2 , pp. 183-187
    • Burn, T.C.1    Connors, T.D.2    Klinger, K.W.3    Landes, G.M.4
  • 3
    • 35048831303 scopus 로고    scopus 로고
    • Use of an exon-trapping vector for the evaluation of splice-site mutations
    • DOI 10.1007/s00335-007-9047-z
    • B Schneider A Koppius R Sedlmeier 2007 Use of an exon-trapping vector for the evaluation of splice-site mutations Mamm Genome 18 9 670 676 10.1007/s00335-007-9047-z 17687606 10.1007/s00335-007-9047-z 1:CAS:528:DC%2BD2sXhtFenu7jJ (Pubitemid 47556513)
    • (2007) Mammalian Genome , vol.18 , Issue.9 , pp. 670-676
    • Schneider, B.1    Koppius, A.2    Sedlmeier, R.3
  • 4
    • 77952725403 scopus 로고    scopus 로고
    • Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts
    • 10.1186/1471-2350-11-80 20507642 10.1186/1471-2350-11-80
    • P Whiley C Pettigrew B Brewster L Walker k Investigators A Spurdle M Brown 2010 Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts BMC Med Genet 11 1 80 10.1186/1471-2350-11-80 20507642 10.1186/1471-2350-11-80
    • (2010) BMC Med Genet , vol.11 , Issue.1 , pp. 80
    • Whiley, P.1    Pettigrew, C.2    Brewster, B.3    Walker, L.4    Investigators, K.5    Spurdle, A.6    Brown, M.7
  • 5
    • 74849119216 scopus 로고    scopus 로고
    • The silent mutation nucleotide 744 G→A, Lys172Lys, in exon 6 of BRCA2 results in exon skipping
    • 10.1007/s10549-009-0359-4 19267246 10.1007/s10549-009-0359-4 1:CAS:528:DC%2BC3cXlslWrsg%3D%3D
    • T Hansen A Steffensen L Jønson M Andersen B Ejlertsen F Nielsen 2010 The silent mutation nucleotide 744 G→A, Lys172Lys, in exon 6 of BRCA2 results in exon skipping Breast Cancer Res Treat 119 3 547 550 10.1007/s10549-009-0359-4 19267246 10.1007/s10549-009-0359-4 1:CAS:528:DC%2BC3cXlslWrsg%3D%3D
    • (2010) Breast Cancer Res Treat , vol.119 , Issue.3 , pp. 547-550
    • Hansen, T.1    Steffensen, A.2    Jønson, L.3    Andersen, M.4    Ejlertsen, B.5    Nielsen, F.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.