1031-1034delTAAC (Leu125Stop): a novel familial <it>UBE3A</it> mutation causing Angelman syndrome in two siblings showing distinct phenotypes

1031-1034delTAAC (Leu125Stop): a novel familial <it>UBE3A</it> mutation causing Angelman syndrome in two siblings showing distinct phenotypes

<p>Abstract</p> <p>Background</p> <p>More than 50 mutations in the <it>UBE3A</it> gene (E6-AP ubiquitin protein ligase gene) have been found in Angelman syndrome patients with no deletion, no uniparental disomy, and no imprinting defect.</p> <p>C...

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Bibliographic Details
Main Authors: De Molfetta Greice Andreotti, Ferreira Cristiane Ayres, Vidal Daniel Onofre, de Rosso Giuliani Liane, Maldonado Maria José, Silva Wilson Araujo
Format: Article
Language:English
Published: BMC 2012-12-01
Series:BMC Medical Genetics
Subjects:
Angelman syndrome
<it>UBE3A</it> gene
Imprinting
Novel mutation
Distinct phenotypes
HRM
Online Access:http://www.biomedcentral.com/1471-2350/13/124

Internet

http://www.biomedcentral.com/1471-2350/13/124

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