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accomplishes    音标拼音: [ək'ɑmplɪʃɪz]

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  • BRCA1 and BRCA2 mutation spectrum – an update on mutation . . .
    There were 120 different BRCA1 and 87 different BRCA2 variants among the mutation carriers Forty-six per cent of the registered BRCA1 2 families (454 981) had a previously reported Norwegian founder mutation The majority of BRCA1 2 mutations (71%) were rare, each found in only one or two families
  • Frontiers | Molecular Trajectory of BRCA1 and BRCA2 Mutations
    Both BRCA1 and BRCA2 are large genes, which consist of ~100 and 70 kb, respectively; the largest exon of both the BRCA genes is exon 11 Although these genetic features resemble the proof of breast and ovarian cancer predisposing gene family at the first glance, there is no homology between BRCA1 and BRCA2 (13)
  • Association of Type and Location of BRCA1 and BRCA2 Mutations . . .
    These results are consistent with prior reports of OCCRs in both BRCA1 and BRCA2 that lie in or near exon 11 of both genes 3,5,29,30 Mutations in exon 11 could produce a partial BRCA1 protein encoded by the known exon 11 splice variant, while the full-length protein is lost by the process of NMD 6 Murine embryos carrying the exon 11–deleted
  • BRCA genes: BRCA 1 and BRCA 2 - JBUON
    BRCA1 is located on the chromosome 17q21 and has 24 exons BRCA1 codes for a protein con-sisting of 1863 aminoacids (5 6 kb) BRCA2 is lo-cated on chromosome 13q12 and consists of 27 exons, with exon 11 being the largest one (4 9 kb) BRCA2 codes for a protein consisting of 3418 ami-noacids (10 2 kb)
  • BRCA1 - Genes - GTR - NCBI - National Center for . . .
    The BRCA1 gene contains 22 exons spanning about 110 kb of DNA The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1 -associated genome surveillance complex (BASC)
  • A novel BRCA1 duplication and new insights on the spectrum . . .
    BRCA1 mutations were more predominant (n = 8, 57 1%) than BRCA2 mutations (6, 42 9%) The most common recurrent mutations were BRCA2 exon three and BRCA1 exon 24 (23) deletions To the best of our knowledge, BRCA1 5'UTR-exon11 duplication has never been reported before
  • BRCA Gene Changes: Cancer Risk and Genetic Testing
    Testing for inherited changes in BRCA1 and BRCA2 can give several possible results: a positive result (a harmful change in the gene is present), a negative result (no harmful gene change is present), or a gene change (variant) of uncertain significance (VUS) result





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