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Missense Mutations in hMLH1 and hMSH2 Are Associated with Exonic Splicing Enhancers

There is a critical need to understand why missense mutations are deleterious. The deleterious effects of missense mutations are commonly attributed to their impact on primary amino acid sequence and protein structure. However, several recent studies have shown that some missense mutations are delet...

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Detalhes bibliográficos
Main Authors: Gorlov, Ivan P., Gorlova, Olga Y., Frazier, Marsha L., Amos, Christopher I.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2003
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180494/
https://ncbi.nlm.nih.gov/pubmed/14526391
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