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Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.
Diabetes. 2017 Jul;66(7):2044-2053. doi: 10.2337/db16-1296. Epub 2017 May 3.
Diabetes. 2017.
PMID: 28468959
Free PMC article.
Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism.
Shimomura K, Flanagan SE, Zadek B, Lethby M, Zubcevic L, Girard CA, Petz O, Mannikko R, Kapoor RR, Hussain K, Skae M, Clayton P, Hattersley A, Ellard S, Ashcroft FM.
Shimomura K, et al. Among authors: petz o.
EMBO Mol Med. 2009 Jun;1(3):166-77. doi: 10.1002/emmm.200900018.
EMBO Mol Med. 2009.
PMID: 20049716
Free PMC article.
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