Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype
Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype
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Author / Creator
Blommaert, Eline , Péanne, Romain , Cherepanova, Natalia A. , Rymen, Daisy , Staels, Frederik , Jaeken, Jaak , Race, Valérie , Keldermans, Liesbeth , Souche, Erika , Corveleyn, Anniek , Sparkes, Rebecca , Bhattacharya, Kaustuv , Devalck, Christine , Schrijvers, Rik , Foulquier, François , Gilmore, Reid and Matthijs, Gert
Publisher
United States: National Academy of Sciences
Journal title
Language
English
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Publisher
United States: National Academy of Sciences
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Scope and Contents
Contents
Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, due to impaired protein and lipid glycosylation. We identified two patients with defective serum transferrin glycosylation and mutations in the MAGT1 gene. These patients present with a phenotype that is mainly characterized by intellectual and developmental disabil...
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Full title
Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype
Authors, Artists and Contributors
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6525510
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6525510
Other Identifiers
ISSN
0027-8424
E-ISSN
1091-6490
DOI
10.1073/pnas.1817815116
