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

BACKGROUND: More than 50 mutations in the UBE3A gene (E6-AP ubiquitin protein ligase gene) have been found in Angelman syndrome patients with no deletion, no uniparental disomy, and no imprinting defect. CASE PRESENTATION: We here describe a novel UBE3A frameshift mutation in two siblings who have i...

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Detalles Bibliográficos
Autores principales: De Molfetta, Greice Andreotti, Ferreira, Cristiane Ayres, Vidal, Daniel Onofre, de Rosso Giuliani, Liane, Maldonado, Maria José, Silva, Wilson Araujo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3543165/
https://www.ncbi.nlm.nih.gov/pubmed/23256887
http://dx.doi.org/10.1186/1471-2350-13-124

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