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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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Detalles Bibliográficos
Autores principales:	Lao, Jessica P., DiPrimio, Nina, Prangley, Madeleine, Sam, Feba S., Mast, Joshua D., Perlstein, Ethan O.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Genetics Society of America 2018
Materias:	Investigations
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6385982/ https://www.ncbi.nlm.nih.gov/pubmed/30530630 http://dx.doi.org/10.1534/g3.118.200934

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