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Analysis of Multiple Mutations in the hALG6 Gene in a Patient with Congenital Disorder of Glycosylation Ic

✍ Scribed by Vibeke Westphal; Celine Schottstädt; Thorsten Marquardt; Hudson H Freeze

Book ID
115639698
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
63 KB
Volume
70
Category
Article
ISSN
1096-7192

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## Abstract Congenital disorders of glycosylation (CDG) are a group of metabolic disorders with multisystemic involvement characterized by abnormalities in the synthesis of N‐linked oligosaccharides. The most common form, CDG‐Ia, resulting from mutations in the gene encoding the enzyme phosphomanno