Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene

Phosphoglucomutase 3 (PGM3) is an enzyme converting N-acetyl-glucosamine-6-phosphate to N-acetyl-glucosamine-1-phosphate, a precursor important for glycosylation. Mutations in the PGM3 gene have recently been identified as the cause of novel primary immunodeficiency with a hyper-IgE like syndrome. H...

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Bibliografski detalji
Izdano u:Clin Immunol
Glavni autori: Lundin, Karin E., Hamasy, Abdulrahman, Backe, Paul Hoff, Moens, Lotte N., Falk-Sörqvist, Elin, Elgstøen, Katja B., Mørkrid, Lars, Bjørås, Magnar, Granert, Carl, Norlin, Anna-Carin, Nilsson, Mats, Christensson, Birger, Stenmark, Stephan, Smith, C.I. Edvard
Format: Artigo
Jezik:Inglês
Izdano: Academic Press 2015
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4695917/
https://ncbi.nlm.nih.gov/pubmed/26482871
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.clim.2015.10.002
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