Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature

Glycosylation is a critical post/peri-translational modification required for the appropriate development and function of the immune system. As an example, abnormalities in glycosylation can cause antibody deficiency and reduced lymphocyte signaling, although the phenotype can be complex given the d...

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Vydáno v:Am J Med Genet A
Hlavní autoři: Poskanzer, Sheri A., Schultz, Matthew J., Turgeon, Coleman T., Vidal-Folch, Noemi, Liedtke, Kris, Oglesbee, Devin, Gavrilov, Dimitar K., Tortorelli, Silvia, Matern, Dietrich, Rinaldo, Piero, Bennett, James T., Thies, Jenny M., Chang, Irene J., Beck, Anita E., Raymond, Kimiyo, Allenspach, Eric J., Lam, Christina
Médium: Artigo
Jazyk:Inglês
Vydáno: 2020
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8098812/
https://ncbi.nlm.nih.gov/pubmed/33044030
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61914
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