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Mutations in HNF1A result in marked alterations of plasma glycan profile.
Thanabalasingham G, Huffman JE, Kattla JJ, Novokmet M, Rudan I, Gloyn AL, Hayward C, Adamczyk B, Reynolds RM, Muzinic A, Hassanali N, Pucic M, Bennett AJ, Essafi A, Polasek O, Mughal SA, Redzic I, Primorac D, Zgaga L, Kolcic I, Hansen T, Gasperikova D, Tjora E, Strachan MW, Nielsen T, Stanik J, Klimes I, Pedersen OB, Njølstad PR, Wild SH, Gyllensten U, Gornik O, Wilson JF, Hastie ND, Campbell H, McCarthy MI, Rudd PM, Owen KR, Lauc G, Wright AF. Thanabalasingham G, et al. Among authors: pedersen ob. Diabetes. 2013 Apr;62(4):1329-37. doi: 10.2337/db12-0880. Epub 2012 Dec 28. Diabetes. 2013. PMID: 23274891 Free PMC article.
Novel MODY3 mutations in the hepatocyte nuclear factor-1alpha gene: evidence for a hyperexcitability of pancreatic beta-cells to intravenous secretagogues in a glucose-tolerant carrier of a P447L mutation.
Hansen T, Eiberg H, Rouard M, Vaxillaire M, Møller AM, Rasmussen SK, Fridberg M, Urhammer SA, Holst JJ, Almind K, Echwald SM, Hansen L, Bell GI, Pedersen O. Hansen T, et al. Diabetes. 1997 Apr;46(4):726-30. doi: 10.2337/diab.46.4.726. Diabetes. 1997. PMID: 9075819
456 results