Comparative In Vitro and In Silico Analyses of Variants in Splicing Regions of BRCA1 and BRCA2 Genes and Characterization of Novel Pathogenic Mutations

Several unclassified variants (UVs) have been identified in splicing regions of disease-associated genes and their characterization as pathogenic mutations or benign polymorphisms is crucial for the understanding of their role in disease development. In this study, 24 UVs located at BRCA1 and BRCA2...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Colombo, Mara, De Vecchi, Giovanna, Caleca, Laura, Foglia, Claudia, Ripamonti, Carla B., Ficarazzi, Filomena, Barile, Monica, Varesco, Liliana, Peissel, Bernard, Manoukian, Siranoush, Radice, Paolo
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2013
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3579815/
https://ncbi.nlm.nih.gov/pubmed/23451180
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0057173
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados