Titre:
  • dUTPase (DUT) Is Mutated in a Novel Monogenic Syndrome With Diabetes and Bone Marrow Failure.
Auteur:Dos Santos, Reinaldo Sousa; Daures, Mathilde; Philippi, Anne; Romero, Sophie; Marselli, Lorella; Marchetti, Piero; Senée, Valérie; Bacq, Delphine; Besse, Céline; Baz, Baz; Marroquí, Laura; Ivanoff, Sarah; Masliah-Planchon, Julien; Nicolino, Marc; Soulier, Jean; Socié, Gérard; Eizirik, Decio L.; Gautier, Jean-François; Julier, Cécile
Informations sur la publication:Diabetes, 66, 4, page (1086-1096)
Statut de publication:Publié, 2017-04
Sujet CREF:Sciences bio-médicales et agricoles
MeSH keywords:Adolescent
Adult
Aged
Anemia, Aplastic -- genetics
Animals
Apoptosis -- genetics
Blotting, Western
Bone Marrow Diseases -- genetics
Child
Consanguinity
Crystallography, X-Ray
Diabetes Mellitus -- genetics
Female
Hemoglobinuria, Paroxysmal -- genetics
Humans
Islets of Langerhans -- metabolism
Male
Middle Aged
Molecular Structure
Mutation
Pyrophosphatases -- genetics
RNA, Messenger -- metabolism
RNA, Small Interfering
Rats
Rats, Wistar
Sequence Analysis, DNA
Syndrome
Young Adult
Note générale:SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:0012-1797
info:doi/10.2337/db16-0839
info:pii/db16-0839
info:scp/85019574063
info:pmid/28073829