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dUTPase (DUT) Is Mutated in a Novel Monogenic Syndrome With Diabetes and Bone Marrow Failure.

par 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
Référence Diabetes (New York, N.Y.), 66, 4, page (1086-1096)
Publication Publié, 2017-04

Article révisé par les pairs

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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 (New York, N.Y.), 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