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Page 1
GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency.
Diabetes. 2013 Mar;62(3):993-7. doi: 10.2337/db12-0885. Epub 2012 Dec 6.
Diabetes. 2013.
PMID: 23223019
Free PMC article.
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
Raimondo A, Chakera AJ, Thomsen SK, Colclough K, Barrett A, De Franco E, Chatelas A, Demirbilek H, Akcay T, Alawneh H; International NDM Consortium; Flanagan SE, Van De Bunt M, Hattersley AT, Gloyn AL, Ellard S; International NDM Consortium.
Raimondo A, et al.
Hum Mol Genet. 2014 Dec 15;23(24):6432-40. doi: 10.1093/hmg/ddu360. Epub 2014 Jul 11.
Hum Mol Genet. 2014.
PMID: 25015100
Free PMC article.
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