GATA6 Mutations Cause a Broad Phenotypic Spectrum of Diabetes From Pancreatic Agenesis to Adult-Onset Diabetes Without Exocrine Insufficiency

We recently reported de novo GATA6 mutations as the most common cause of pancreatic agenesis, accounting for 15 of 27 (56%) patients with insulin-treated neonatal diabetes and exocrine pancreatic insufficiency requiring enzyme replacement therapy. We investigated the role of GATA6 mutations in 171 s...

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Detalles Bibliográficos
Autores principales: De Franco, Elisa, Shaw-Smith, Charles, Flanagan, Sarah E., Shepherd, Maggie H., Hattersley, Andrew T., Ellard, Sian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Diabetes Association 2013
Materias:
Genetics/Genomes/Proteomics/Metabolomics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3581234/
https://www.ncbi.nlm.nih.gov/pubmed/23223019
http://dx.doi.org/10.2337/db12-0885

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3581234/
https://www.ncbi.nlm.nih.gov/pubmed/23223019
http://dx.doi.org/10.2337/db12-0885

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