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Article

Strategies for preimplantation genetic diagnosis of Angelman syndrome caused by mutations in the UBE3A gene.

Reproductive biomedicine online - 1 Apr 2005

Girardet A, Moncla A, Hamamah S, Claustres M

Abstract excerpt

Angelman syndrome (AS) is a neurodevelopmental disorder associated with the loss of maternal gene expression in chromosome region 15q11-q13. AS is caused by a wide variety of genetic mechanisms, including mutations in the UBE3A gene that have been identified in 10-15% of patients; when the mother...

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PMID: 15901461
DOI: 10.1016/s1472-6483(10)60830-9

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PGD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15901461-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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