Article
NF1 gene analysis based on DHPLC.
Human mutation - 1 Feb 2003
De Luca Alessandro, Buccino Anna, Gianni Debora, Mangino Massimo, Giustini Sandra, Richetta Antonio, Divona Luigina, Calvieri Stefano, Mingarelli Rita, Dallapiccola Bruno
Abstract excerpt
The high mutation rate at the NF1 locus results in a wide range of molecular abnormalities. The majority of these mutations are private and rare, generating elevated allelic diversity with a restricted number of recurrent mutations. In this study, we have assessed the efficacy of denaturing high-performance liquid chromatography (DHPLC), for detecting mutation in the NF1 gene. DHPLC is a fast and highly sensitive...
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