A deletion-insertion mutation in the pho
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Tayebi, Nahid ;Andrews, David Q. ;Park, Joseph K. ;Orvisky, Eduard ;McReynolds,
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Article
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2002
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John Wiley and Sons
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English
β 221 KB
π 1 views
## Abstract Congenital disorders of glycosylation (CDG) are a group of metabolic disorders with multisystemic involvement characterized by abnormalities in the synthesis of Nβlinked oligosaccharides. The most common form, CDGβIa, resulting from mutations in the gene encoding the enzyme phosphomanno