title: Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA.
authors: Unité Fonctionnelle de Génétique Médicale AP-HP, Département de Génétique et Cytogénétique, Centre de Référence «Déficiences Intellectuelles de Causes Rares», Groupe Hospitalier CRicm, UMR-S975 (Ex-U679), Pitié-Salpêtrière, Paris, France. juliette.piard@gmail.com
authors: Juliette
authors: J
authors: Piard
authors: Christel
authors: C
authors: Depienne
authors: Boris
authors: B
authors: Keren
authors: Estelle
authors: E
authors: Fédirko
authors: Oriane
authors: O
authors: Trouillard
authors: Perrine
authors: P
authors: Charles
authors: Delphine
authors: D
authors: Heron
mesh_terms: D000293:Adolescent; D017204:Angelman Syndrome / Q000175:diagnosis* / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005091:Exons; D019066:Facies; D005260:Female; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D007223:Infant; D022521:Ligase Chain Reaction; D010641:Phenotype; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: C471639:UBE3A protein, human; D044767:Ubiquitin-Protein Ligases