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Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation

Phosphomannomutase 2 Deficiency (PMM2-CDG) is the most common monogenic congenital disorder of glycosylation (CDG) affecting at least 800 patients globally. PMM2 orthologs are present in model organisms, including the budding yeast Saccharomyces cerevisiae gene SEC53. Here we describe conserved geno...

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Detalhes bibliográficos
Publicado no:G3 (Bethesda)
Main Authors: Lao, Jessica P., DiPrimio, Nina, Prangley, Madeleine, Sam, Feba S., Mast, Joshua D., Perlstein, Ethan O.
Formato: Artigo
Idioma:Inglês
Publicado em: Genetics Society of America 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6385982/
https://ncbi.nlm.nih.gov/pubmed/30530630
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1534/g3.118.200934
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