Article
Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes.
Human mutation - 1 Feb 2003
Emmerson Paul, Maynard Julie, Jones Siân, Butler Rachel, Sampson Julian R, Cheadle Jeremy P
Abstract excerpt
Somatic mosaicism is a frequent phenomenon in mendelian disorders that exhibit a high proportion of new mutations; however, mutant alleles present at low frequency are difficult to detect and characterize. We have previously shown that denaturing high-performance liquid chromatography (DHPLC) can detect TSC1 and TSC2 mutations in tuberous sclerosis patients with low-level somatic mosaicism, even when direct...
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