Mutation scanning of the CFTR gene by high-resolution melting analysis (HRM)
نویسندگان
چکیده
منابع مشابه
Evaluation of high-resolution melting (HRM) for mutation scanning of selected exons of the CFTR gene.
Hereby we present evaluation of high-resolution melting for mutation scanning applied to the cystic fibrosis transmembrane conductance regulator gene. High resolution melting was used for mutation scanning of selected samples derived from cystic fibrosis patients with a known cystic fibrosis transmembrane conductance regulator genotype. We tested 19 different disease-causing cystic fibrosis tra...
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Mutation scanning techniques are used to detect sequence variants without the need for prior knowledge of the identity or precise location of the variant, in contrast with genotyping techniques, which determine the status of a specific variant. High-resolution melting is a recently developed method that shows great potential as a mutation scanning technique. Sensitivity and specificity for muta...
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ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2008
ISSN: 1569-1993
DOI: 10.1016/s1569-1993(08)60015-6