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Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus.

par Abramowicz, Marc ;Andrien, Marc E. ;Dupont, E.;Dorchy, Harry ;Parma, Jasmine ;Duprez, Laurence ;Ledley, F D;Courtens, Winnie;Vamos, Eszter
Référence The Journal of clinical investigation, 94, 1, page (418-421)
Publication Publié, 1994-07

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Titre:	Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus.
Auteur:	Abramowicz, Marc; Andrien, Marc E.; Dupont, E.; Dorchy, Harry; Parma, Jasmine; Duprez, Laurence; Ledley, F D; Courtens, Winnie; Vamos, Eszter
Informations sur la publication:	The Journal of clinical investigation, 94, 1, page (418-421)
Statut de publication:	Publié, 1994-07
Sujet CREF:	Sciences bio-médicales et agricoles
Mots-clés:	congenital diabetes mellitus
	human leukocyte antigen
	isodisomy
	methylmalonic acidemia
	uniparental disomy
MeSH keywords:	Amino Acid Metabolism, Inborn Errors -- genetics
	Chromosome Aberrations
	Chromosomes, Human, Pair 6
	Diabetes Mellitus, Type 1 -- congenital
	Diabetes Mellitus, Type 1 -- etiology
	Female
	Genes, MHC Class I
	Genes, MHC Class II
	Humans
	Infant, Newborn
	Islets of Langerhans -- abnormalities
	Methylmalonic Acid -- blood
	Methylmalonyl-CoA Mutase -- genetics
	Pedigree
Note générale:	Journal Article
	Research Support, U.S. Gov't, P.H.S.
Langue:	Anglais
Identificateurs:	urn:issn:0021-9738
	info:doi/10.1172/JCI117339
	info:scp/0028292032
	info:pmid/7913714
	PMC296325