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Article

Mutation analysis of UBE3A in Angelman syndrome patients.

American journal of human genetics - 1 Jun 1998

Malzac P, Webber H, Moncla A, Graham J M, Kukolich M, Williams C, Pagon R A, Ramsdell L A, Kishino T, Wagstaff J

Abstract excerpt

Angelman syndrome (AS) is caused by chromosome 15q11-q13 deletions of maternal origin, by paternal uniparental disomy (UPD) 15, by imprinting defects, and by mutations in the UBE3A gene. UBE3A encodes a ubiquitin-protein ligase and shows brain-specific imprinting. Here we describe UBE3A coding-region mutations detected by SSCP analysis in 13 AS individuals or families. Two identical de novo 5-bp duplications in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 9585605
DOI: 10.1086/301877
PMCID: PMC1377156

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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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