GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients
نویسندگان
چکیده
منابع مشابه
GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients
BACKGROUND Mutations in PMM2 impair phosphomannomutase-2 activity and cause the most frequent congenital disorder of glycosylation, PMM2-CDG. Mannose-1-phosphate, that is deficient in this disorder, is also implicated in the biosynthesis of glycosylphosphatidyl inositol (GPI) anchors. OBJECTIVE To evaluate whether GPI-anchor and GPI-anchored proteins are defective in PMM2-CDG patients. METH...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2013
ISSN: 1750-1172
DOI: 10.1186/1750-1172-8-170