In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects

BACKGROUND: Abnormalities of pre-mRNA splicing are increasingly recognized as an important mechanism through which gene mutations cause disease. However, apart from the mutations in the donor and acceptor sites, the effects on splicing of other sequence variations are difficult to predict. Loosely d...

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Detalles Bibliográficos
Autores principales: Lastella, Patrizia, Surdo, Nicoletta Concetta, Resta, Nicoletta, Guanti, Ginevra, Stella, Alessandro
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2006
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1590028/
https://www.ncbi.nlm.nih.gov/pubmed/16995940
http://dx.doi.org/10.1186/1471-2164-7-243

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1590028/
https://www.ncbi.nlm.nih.gov/pubmed/16995940
http://dx.doi.org/10.1186/1471-2164-7-243

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