المؤلفون: Benedito Mauro Rossi, Felipe Cavalcanti Carneiro da Silva, Dirce Maria Carraro, Bianca Lisboa, Giovana Tardin Torrezan, Márcia Cristina Pena Figueiredo, Ana Cristina Victorino Krepischi, Erika Maria Monteiro Santos, Maria Isabel Achatz

المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
BMC Medical Genetics

مصطلحات موضوعية: Mutation rate, Transcription, Genetic, endocrine system diseases, DOENÇAS HEREDITÁRIAS, DNA Mutational Analysis, Genes, BRCA2, Gene Dosage, Genes, BRCA1, TP53 R337H, Breast cancer, Mutation Rate, CDKN2A, CHEK 1100delC, Genetics(clinical), Copy-number variation, skin and connective tissue diseases, Genetics (clinical), Aged, 80 and over, Genetics, Comparative Genomic Hybridization, HBOC, Exons, Middle Aged, Hereditary Breast and Ovarian Cancer Syndrome, Female, Brazil, Research Article, Adult, Heterozygote, DNA Copy Number Variations, Molecular Sequence Data, Biology, Young Adult, Germline mutation, medicine, Humans, Point Mutation, Genetic Predisposition to Disease, Amino Acid Sequence, Multiplex ligation-dependent probe amplification, Germ-Line Mutation, Aged, Point mutation, BRCA1, medicine.disease, BRCA2, Alternative Splicing, Checkpoint Kinase 2, Mutation, Cancer research, RNA Splice Sites, Tumor Suppressor Protein p53, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0656ba64eabb3994f60790fd3ccf09b
https://doi.org/10.1186/1471-2350-15-55

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