Clinical utility gene card for: B4GALT7-defective congenital disorder of glycosylation.
Department of Development and Regeneration, Centre for Metabolic Disease, University Hospital Gasthuisberg, KULeuven, Leuven, Belgium.
Jaak
J
Jaeken
Department of Neurology, Translational Metabolic Laboratory, Radboudumc, Nijmegen, The Netherlands.
Dirk J
DJ
Lefeber
Department of Human Genetics, Centre for Human Genetics, KULeuven, Leuven, Belgium.
Gert
G
Matthijs
D005693:Galactosemias / Q000175:diagnosis / Q000235:genetics*; D005700:Galactosyltransferases / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods / Q000592:standards; D006801:Humans; D009154:Mutation
D005700:Galactosyltransferases; C063053:xylosylprotein 4-beta-galactosyltransferase