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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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2019
Assuntos:
Biological Sciences
Acesso em linha: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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