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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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Detalhes bibliográficos
Main Authors: Lastella, Patrizia, Surdo, Nicoletta Concetta, Resta, Nicoletta, Guanti, Ginevra, Stella, Alessandro
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2006
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1590028/
https://ncbi.nlm.nih.gov/pubmed/16995940
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2164-7-243
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