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Article

UBE3A "mutations" in two unrelated and phenotypically different Angelman syndrome patients.

Human genetics - 1 Apr 1998

Fung D C, Yu B, Cheong K F, Smith A, Trent R J

Abstract excerpt

Angelman syndrome (AS) is a rare neurodevelopmental disorder. Recently, several mutations have been found in the E6-AP ubiquitin protein ligase gene (UBE3A) in a group of patients who are nondeleted and do not have uniparental disomy or imprinting defects. Most of the reported mutations cluster within exons 9 or 16 of the UBE3A gene, and nearly all are predicted to give rise to truncated E6-AP ligases. Here, we...

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Identifiers

PMID: 9600250
DOI: 10.1007/s004390050727

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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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