Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation

Eur J Hum Genet. 2015 Dec;23(12). doi: 10.1038/ejhg.2015.177. Epub 2015 Aug 5.

Authors

Jaak Jaeken¹, Dirk Lefeber², Gert Matthijs³

Affiliations

¹ Department of Development and Regeneration, Centre for Metabolic Disease, University Hospital Gasthuisberg, KU Leuven, Leuven, Belgium.
² Department of Neurology, Translational Metabolic Laboratory, Radboudumc, Nijmegen, The Netherlands.
³ Department of Human Genetics, Centre for Human Genetics, KU Leuven, Leuven, Belgium.

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Congenital Disorders of Glycosylation / diagnosis
Congenital Disorders of Glycosylation / epidemiology
Congenital Disorders of Glycosylation / genetics*
Genetic Testing / methods
Humans
N-Acetylglucosaminyltransferases / genetics*

Substances

N-Acetylglucosaminyltransferases
dolichyl-phosphate alpha-N-acetylglucosaminyltransferase