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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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Détails bibliographiques
Auteurs principaux: Mooney, Sean D, Klein, Teri E
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2002
Sujets:
Accès en ligne: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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