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Mutation analysis

Definition(s)

Testing for the presence of a specific mutation (e.g., Glu6Val for sickle cell anemia or a trinucleotide repeat expansion associated with spinocerebellar ataxia) or set of mutations (e.g., a panel of mutations for cystic fibrosis), as opposed to complete gene sequencing or mutation scanning, which detect most, if not all, mutations in the tested region: Definition from: GeneReviews from the University of Washington and the National Center for Biotechnology Information


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