Insulin Gene Mutations Resulting in Early-Onset Diabetes: Marked Differences in Clinical Presentation, Metabolic Status, and Pathogenic Effect Through Endoplasmic Reticulum Retention

OBJECTIVE: Heterozygous mutations in the human preproinsulin (INS) gene are a cause of nonsyndromic neonatal or early-infancy diabetes. Here, we sought to identify INS mutations associated with maturity-onset diabetes of the young (MODY) or nonautoimmune diabetes in mid-adult life, and to explore th...

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Detalles Bibliográficos
Autores principales: Meur, Gargi, Simon, Albane, Harun, Nasret, Virally, Marie, Dechaume, Aurélie, Bonnefond, Amélie, Fetita, Sabrina, Tarasov, Andrei I., Guillausseau, Pierre-Jean, Boesgaard, Trine Welløv, Pedersen, Oluf, Hansen, Torben, Polak, Michel, Gautier, Jean-François, Froguel, Philippe, Rutter, Guy A., Vaxillaire, Martine
Formato: Texto
Lenguaje:English
Publicado: American Diabetes Association 2010
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2828668/
https://www.ncbi.nlm.nih.gov/pubmed/20007936
http://dx.doi.org/10.2337/db09-1091

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