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 ;
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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: | |