PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia - Stray-Pedersen, Asbjørg; Backe, Paul H.; Sorte, Hanne S.; Mørkrid, Lars; Chokshi, Niti Y.; Erichsen, Hans Christian; Gambin, Tomasz; Elgstøen, Katja B.P.; Bjørås, Magnar; Wlodarski, Marcin W.; Krüger, Marcus; Jhangiani, Shalini N.; et al. (American journal of human genetics, 2014)
Keywords: Bone Diseases, Developmental - genetics; Congenital diseases; Congenital Disorders of Glycosylation - genetics; E coli; Escherichia coli; Female; Genomics; Genotype & phenotype; Glycosylation; Humans; Immunologic Deficiency Syndromes - genetics; Male; Mutation; Pedigree; Phosphoglucomutase - genetics; Stem cells