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A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction

Bobby Ng, Paulina Sosicka, François Fenaille, Annie Harroche, Sandrine Vuillaumier‐Barrot, Mindy Porterfield, Zhi‐Jie Xia, Shannon M. Wagner, Michael J. Bamshad, Marie-Christine Vergnes-Boiteux, Sophie Cholet, Stephen Dalton, Anne Dell, Thierry Dupré, Mathieu Fiore, Stuart M. Haslam, Yohann Huguenin, Tadahiro Kumagai, Michael Kulik, Katherine E. McGoogan, Caroline Michot, Deborah A. Nickerson, Tiffany Pascreau, Delphine Borgel, Kimiyo Raymond, Deepti Warad, Heather Flanagan‐Steet, Richard Steet, Michael Tiemeyer, Nathalie Séta, Arnaud Bruneel, Hudson H. Freeze

2021The American Journal of Human Genetics22 citationsDOIOpen Access PDF

Topics & Concepts

Liver dysfunctionMutationGlycosylationGeneticsMedicineBiologyGastroenterologyGeneGlycosylation and Glycoproteins ResearchCarbohydrate Chemistry and SynthesisBiochemical and Molecular Research
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction | Litcius