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Volumn 35, Issue 1, 2012, Pages 53-56

Medium-sized deletion in the BRCA1 gene: Limitations of Sanger sequencing and MLPA analyses

Author keywords

DNA sequencing; Hereditary breast cancer; Model calculations; Mutation analysis; PCR

Indexed keywords

ADULT; AMPLICON; ARTICLE; BREAST CANCER; CONTROLLED STUDY; EXON; FAMILY HISTORY; FAMILY STUDY; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE LOSS; GENE MUTATION; GENE SEQUENCE; GENETIC RISK; HUMAN; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; ONCOGENE; OVARY CANCER; POLYMERASE CHAIN REACTION; PROBABILITY;

EID: 84858192792     PISSN: 14154757     EISSN: 16784685     Source Type: Journal    
DOI: 10.1590/S1415-47572012005000001     Document Type: Article
Times cited : (5)

References (6)
  • 1
    • 0037176221 scopus 로고    scopus 로고
    • Establishing a control population to screen for the occurrence of nineteen unclassified variants in the BRCA1 gene by denaturing high-performance liquid chromatography
    • Arnold N, Peper H, Bandick K, Kreikemeier M, Karow D, Teegen B and Jonat W (2002) Establishing a control population to screen for the occurrence of nineteen unclassified variants in the BRCA1 gene by denaturing high-performance liquid chromatography. J Chromatogr B Analyt Technol Biomed Life Sci 782:99-104.
    • (2002) J Chromatogr B Analyt Technol Biomed Life Sci , vol.782 , pp. 99-104
    • Arnold, N.1    Peper, H.2    Bandick, K.3    Kreikemeier, M.4    Karow, D.5    Teegen, B.6    Jonat, W.7
  • 3
    • 0142178215 scopus 로고    scopus 로고
    • Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2
    • King MC, Marks JH and Mandell JB (2003) Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 302:643-646.
    • (2003) Science , vol.302 , pp. 643-646
    • King, M.C.1    Marks, J.H.2    Mandell, J.B.3
  • 5
    • 66349115872 scopus 로고    scopus 로고
    • Diagnostic guidelines for high-resolution melting curve (HRM) analysis: An interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner
    • van der Stoep N, van Paridon CD, Janssens T, Krenkova P, Stambergova A, Macek M, Matthijs G and Bakker E (2009) Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner. Hum Mutat 30:899-909.
    • (2009) Hum Mutat , vol.30 , pp. 899-909
    • van der Stoep, N.1    van Paridon, C.D.2    Janssens, T.3    Krenkova, P.4    Stambergova, A.5    Macek, M.6    Matthijs, G.7    Bakker, E.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.