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Article

Denaturing high-performance liquid chromatography for the detection of mutations and polymorphisms in UBE3A.

Genetic testing - 1 Jan 2003

Bercovich D, Beaudet A L

Abstract excerpt

Angelman syndrome (AS) is caused by maternal deficiency of UBE3A, the gene encoding E6-AP ubiquitin-protein ligase. Our objectives were to develop conditions for denaturing high-performance liquid chromatography (dHPLC) analysis of UBE3A and to compare the sensitivity to direct genomic sequencing. Genomic DNA was obtained from 17 Angelman patients with known mutations and from 120 normal controls. DNA was...

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Identifiers

PMID: 14641994
DOI: 10.1089/109065703322537197

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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