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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Proc Natl Acad Sci U S A
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: National Academy of Sciences 2019
Gaiak:
Biological Sciences
Sarrera elektronikoa: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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