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Article

Temperature modulation of DHPLC analysis for detection of coexisting constitutional and mosaic sequence variants in TSC2.

Journal of biochemical and biophysical methods - 18 Apr 2002

Antonarakis Emmanuel S, 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 may escape detection. We have previously shown that denaturing high-performance liquid chromatography (DHPLC) at the recommended melt temperature can detect TSC1 and TSC2 mutations in tuberous sclerosis patients with low-level somatic mosaicism, even...

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Source

Identifiers

PMID: 12062115
DOI: 10.1016/s0165-022x(02)00011-8

Genes

TSC2
TSC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Temperature modulation of DHPLC analysis for detection of coexisting constitutional and mosaic sequence variants in TSC2.PMID 12062115Read ↗

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Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis.Semantic proximity Read ↗

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Dual-mode temperature-switchable TSCP probes for precise analysis of PIK3CA mutations and VAF.Semantic proximity Read ↗

Identification of in vivo mutations in exon 5 of the human HPRT gene in a set of pooled T-cell mutants by constant denaturant capillary electrophoresis (CDCE).Semantic proximity Read ↗

Identification of a region required for TSC1 stability by functional analysis of TSC1missense mutations found in individuals with tuberous sclerosis complexSemantic proximity Read ↗

Denaturing temperature selection may underestimate keratin mutation detection by DHPLC.Semantic proximity Read ↗

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