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Bringing precision medicine to the management of pregnancy in women with glucokinase-MODY: a study of diagnostic accuracy and feasibility of non-invasive prenatal testing.
Hughes AE, Houghton JAL, Bunce B, Chakera AJ, Spyer G, Shepherd MH, Flanagan SE, Hattersley AT. Hughes AE, et al. Among authors: chakera aj. Diabetologia. 2023 Nov;66(11):1997-2006. doi: 10.1007/s00125-023-05982-9. Epub 2023 Aug 31. Diabetologia. 2023. PMID: 37653058 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. Among authors: chakera aj. 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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