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eNauka >  Results >  Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature
Title: Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature
Authors: Aguilera, Cinthia; Vinas-Jornet, Marina; Baena, Neus; Gabau, Elisabeth; Fernandez, Concepcion; Capdevila, Nuria; Ćirković, Sanja S.; Sarajlija, Adrijan  ; Mišković, Marijana; Radivojević, Danijela ;
Issue Date: 2017
Publication: BMC medical genetics
ISSN: 1471-2350 BMC Medical Genetics Search Idenfier
Publisher: London : BioMed Central
Type: Article
Collation: vol. 18 br. 1 str. 137
DOI: 10.1186/s12881-017-0500-x
WoS-ID: 000415874100003
Scopus-ID: 2-s2.0-85034631823
PMID: 29162042
PMCID: PMC5696761
URI: https://enauka.gov.rs/handle/123456789/809479
URL: https://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-017-0500-x
Project: Fundacio Parc Tauli- Institut d'Investigacio i Innovacio Parc Tauli I3PT [CIR2015/040]
Asociacion Espanola de Sindrome de Angelman
Instituto de Salud Carlos III [PI16/01411]
Metadata source: (Preuzeto iz Nasi u WoS)
M-category: 
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