Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation

Eur J Hum Genet. 2015 Oct;23(10):1431. doi: 10.1038/ejhg.2015.9. Epub 2015 Feb 4.

Authors

Jaak Jaeken¹, Dirk Lefeber², Gert Matthijs³

Affiliations

¹ Centre for Metabolic Disease, University Hospital Gasthuisberg, KU Leuven, Leuven, Belgium.
² Department of Neurology, Laboratory of Genetic, Endocrine and Metabolic Diseases, Radboudumc, Nijmegen, The Netherlands.
³ 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 / genetics*
Glycosylation
Humans
Mannosyltransferases / genetics*
Mutation / genetics

Substances

Mannosyltransferases
chitobiosyldiphosphodolichol beta-mannosyltransferase