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PMID: 25052310 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

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

European journal of human genetics : EJHG ·Vol. 23 ·No. 2 ·2015-02-00

Jaeken J, Lefeber D, Matthijs G

Abstract

暂无摘要

MeSH Terms
Congenital Disorders of Glycosylation/diagnosis,epidemiology,genetics Genetic Testing Glucosyltransferases/deficiency,genetics Humans Membrane Proteins/deficiency,genetics Mutation Prenatal Diagnosis
Chemicals
Membrane Proteins ALG6 protein, human Glucosyltransferases
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Jaeken Jaak
Centre for Metabolic Disease, University Hospital Gasthuisberg, KU Leuven, Leuven, Belgium.
Lefeber Dirk
Department of Neurology, Laboratory of Genetic, Endocrine and Metabolic Diseases, Nijmegen, The Netherlands.
Matthijs Gert
Centre for Human Genetics, KU Leuven, Leuven, Belgium.
References (21)
21 references, click to expand
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Article Info
Journal
European journal of human genetics : EJHG
Abbr.
Eur J Hum Genet
ISSN
1476-5438
DOI
10.1038/ejhg.2014.146
Published
2015-02-00
Epub
2014-00-23
Language
English
Region
England
NLM ID
9302235
PMCID
PMC4297893
Subset
IM
External Links
PubMed source DOI: 10.1038/ejhg.2014.146 PMC Full Text View journal details
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