Clinical Utility Gene Card For: GALNT3 defective congenital disorder of glycosylation

Eur J Hum Genet. 2018 Aug;26(8):1230-1233. doi: 10.1038/s41431-017-0002-5. Epub 2018 Apr 23.

Authors

Jaak Jaeken¹, Dirk J Lefeber², Gert Matthijs³

Affiliations

¹ Centre for Metabolic Disease, University Hospital Gasthuisberg, KU Leuven, Leuven, Belgium. jaak.jaeken@kuleuven.be.
² Department of Neurology, Translational Metabolic Laboratory, Radboudumc, Nijmegen, The Netherlands.
³ Department of 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*
Congenital Disorders of Glycosylation / pathology
Gene Frequency
Genetic Carrier Screening / methods*
Genetic Carrier Screening / standards
Humans
N-Acetylgalactosaminyltransferases / genetics*
Phenotype*
Polypeptide N-acetylgalactosaminyltransferase

Substances

N-Acetylgalactosaminyltransferases