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Article

Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA.

American journal of medical genetics. Part A - 1 Dec 2011

Piard Juliette, Depienne Christel, Keren Boris, Fédirko Estelle, Trouillard Oriane, Charles Perrine, Heron Delphine

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22065487
DOI: 10.1002/ajmg.a.34334

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Related research

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Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA.PMID 22065487Read ↗

Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: UBE3A. Disease: Angelman Syndrome.Semantic proximity Read ↗

Germline mosaicism of a novel UBE3A mutation in Angelman syndromeSemantic proximity Read ↗

Mutation Update for UBE3A variants in Angelman syndrome.Semantic proximity Read ↗

Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey.Semantic proximity Read ↗

Molecular and Clinical Aspects of Angelman SyndromeSemantic proximity Read ↗

The spectrum of mutations in UBE3A causing Angelman syndrome.Semantic proximity Read ↗

If not Angelman, what is it? a review of Angelman‐like syndromesSemantic proximity Read ↗

A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome.Semantic proximity Read ↗

Angelman syndrome caused by an identical familial 1,487-kb deletion.Semantic proximity Read ↗

Angelman syndrome: a review of clinical and genetic aspects.Semantic proximity Read ↗

Clinical and Genetic Characterization of Angelman Syndrome in a Chinese Cohort: UBE3A Variant Spectrum Expansion and Utility of Long-read SequencingSemantic proximity Read ↗

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