Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation

Eur J Hum Genet. 2015 Feb;23(2). doi: 10.1038/ejhg.2014.146. Epub 2014 Jul 23.

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, 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 / diagnosis
Congenital Disorders of Glycosylation / epidemiology
Congenital Disorders of Glycosylation / genetics*
Genetic Testing
Glucosyltransferases / deficiency
Glucosyltransferases / genetics*
Humans
Membrane Proteins / deficiency
Membrane Proteins / genetics*
Mutation
Prenatal Diagnosis

Substances

Membrane Proteins
ALG6 protein, human
Glucosyltransferases