Titre :
  • Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus.
Auteur : Abramowicz, Marc ; Andrien, M. ; 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
Mots-clés MeSH : 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 : Journal Article
Research Support, U.S. Gov't, P.H.S.
Langue :
  • Anglais
Identificateurs : urn:issn:0021-9738 
info:doi/10.1172/JCI117339
info:pmid/7913714
info:pmcid/PMC296325