Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation
Abstract
Congenital disorders of glycosylation (CDGs) are disorders of abnormal protein glycosylation that affect multiple organ systems. Because most CDGs have been described in only a few individuals, our understanding of the associated phenotypes and the mechanisms of individual survival are limited. In the process of studying two siblings, aged 6 and 11 years, with MOGS-CDG and biallelic MOGS (mannosyl-oligosaccharide glucosidase) mutations (GenBank:...
Paper Details
Title
Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation
Published Date
Feb 1, 2016
Volume
98
Issue
2
Pages
339 - 346
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