Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation
Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation
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United States: Oxford University Press
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English
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United States: Oxford University Press
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Abstract
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 genotype-phenotype relationships across ye...
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Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation
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TN_cdi_proquest_journals_3169761199
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_3169761199
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ISSN
2160-1836
E-ISSN
2160-1836
DOI
10.1534/g3.118.200934
