Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype

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 chara...

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Gepubliceerd in:Proc Natl Acad Sci U S A
Hoofdauteurs: 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, Matthijs, Gert
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: National Academy of Sciences 2019
Onderwerpen:
Biological Sciences
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6525510/
https://ncbi.nlm.nih.gov/pubmed/31036665
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1817815116
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