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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Am J Med Genet A
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2020
Gaiak:
Sarrera elektronikoa: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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