Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus

Permanent neonatal diabetes mellitus (PNDM) is a rare disorder usually presenting within 6 months of birth. Although several genes have been linked to this disorder, in almost half the cases documented in Italy, the genetic cause remains unknown. Because the Akita mouse bearing a mutation in the Ins...

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Détails bibliographiques
Auteurs principaux: Colombo, Carlo, Porzio, Ottavia, Liu, Ming, Massa, Ornella, Vasta, Mario, Salardi, Silvana, Beccaria, Luciano, Monciotti, Carla, Toni, Sonia, Pedersen, Oluf, Hansen, Torben, Federici, Luca, Pesavento, Roberta, Cadario, Francesco, Federici, Giorgio, Ghirri, Paolo, Arvan, Peter, Iafusco, Dario, Barbetti, Fabrizio
Format: Artigo
Langue:Inglês
Publié: American Society for Clinical Investigation 2008
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2350430/
https://ncbi.nlm.nih.gov/pubmed/18451997
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI33777
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