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

• Main Authors: De Molfetta Greice Andreotti (Author), Ferreira Cristiane Ayres (Author), Vidal Daniel Onofre (Author), de Rosso Giuliani Liane (Author), Maldonado Maria José (Author), Silva Wilson Araujo (Author)
• Format: Book
• Published: BMC, 2012-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<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...