A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.
Ng BG, Sosicka P, Fenaille F, Harroche A, Vuillaumier-Barrot S, Porterfield M, Xia ZJ, Wagner S, Bamshad MJ, Vergnes-Boiteux MC, Cholet S, Dalton S, Dell A, Dupré T, Fiore M, Haslam SM, Huguenin Y, Kumagai T, Kulik M, McGoogan K, Michot C, Nickerson DA, Pascreau T, Borgel D, Raymond K, Warad D; University of Washington Center for Mendelian Genomics (UW-CMG); Flanagan-Steet H, Steet R, Tiemeyer M, Seta N, Bruneel A, Freeze HH.
Ng BG, et al. Among authors: huguenin y.
Am J Hum Genet. 2021 Jun 3;108(6):1040-1052. doi: 10.1016/j.ajhg.2021.04.013. Epub 2021 May 7.
Am J Hum Genet. 2021.
PMID: 33964207
Free PMC article.