Titre:
  • Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.
Auteur:Reggiani, Claudio; Coppens, Sandra; Sekhara, Tayeb; Dimov, Ivan; Pichon, Bruno; Lufin, Nicolas; Addor, Marie Claude; Belligni, Elga Fabia; Digilio, Maria Cristina; Faletra, Flavio; Ferrero, Giovanni Battista; Gerard, Marion; Isidor, Bertrand; Joss, Shelagh; Niel-Bütschi, Florence; Perrone, Maria Dolores; Petit, Florence; Renieri, Alessandra; Romana, Serge; Topa, Alexandra; Vermeesch, Joris Robert; Lenaerts, Tom; Casimir, Georges; Abramowicz, Marc; Bontempi, Gianluca; Vilain, Catheline; Deconinck, Nicolas; Smits, Guillaume
Informations sur la publication:Genome medicine, 9, 1, page (67)
Statut de publication:Publié, 2017-07
Sujet CREF:Sciences bio-médicales et agricoles
Mots-clés:DLG2
Functional genomics
Intellectual disability
Neurodevelopmental disorders
Promoters
MeSH keywords:Animals
Child
Developmental Disabilities -- genetics -- metabolism
Exons
Female
Guanylate Kinases -- genetics
Humans
Intellectual Disability -- genetics -- metabolism
Male
Membrane Proteins -- genetics
Mice
Promoter Regions, Genetic
Tumor Suppressor Proteins -- genetics
Note générale:SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:1756-994X
info:doi/10.1186/s13073-017-0452-y
info:pii/10.1186/s13073-017-0452-y
info:scp/85025079330
info:pmid/28724449
PMC5518101