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The functional importance of disease-associated mutation

BACKGROUND: For many years, scientists believed that point mutations in genes are the genetic switches for somatic and inherited diseases such as cystic fibrosis, phenylketonuria and cancer. Some of these mutations likely alter a protein's function in a manner that is deleterious, and they shou...

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Detalhes bibliográficos
Main Authors: Mooney, Sean D, Klein, Teri E
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2002
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC128831/
https://ncbi.nlm.nih.gov/pubmed/12220483
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2105-3-24
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