Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphisms

INTRODUCTION: Aberrant pre-mRNA splicing can be more detrimental to the function of a gene than changes in the length or nature of the encoded amino acid sequence. Although predicting the effects of changes in consensus 5' and 3' splice sites near intron:exon boundaries is relatively strai...

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Detalles Bibliográficos
Autores principales: Pettigrew, Christopher, Wayte, Nicola, Lovelock, Paul K, Tavtigian, Sean V, Chenevix-Trench, Georgia, Spurdle, Amanda B, Brown, Melissa A
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2005
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1410749/
https://www.ncbi.nlm.nih.gov/pubmed/16280041
http://dx.doi.org/10.1186/bcr1324

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1410749/
https://www.ncbi.nlm.nih.gov/pubmed/16280041
http://dx.doi.org/10.1186/bcr1324

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