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...

詳細記述

保存先:
書誌詳細
出版年:Proc Natl Acad Sci U S A
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: National Academy of Sciences 2019
主題:
Biological Sciences
オンライン･アクセス: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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