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CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
Known as:
CDG If
, CDGIf
, Congenital disorder of glycosylation type 1F
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A congenital disorder of glycosylation sub-type caused by mutation(s) in the MPDU1 gene, encoding mannose-P-dolichol utilization defect 1 protein.
National Institutes of Health
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Related topics
Related topics
15 relations
Amaurosis
Ataxia
Autosomal recessive inheritance
Cerebral atrophy
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Broader (1)
Congenital Disorders of Glycosylation
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Review
2006
Review
2006
O-glycosylation in health and disease
S. Wopereis
2006
Corpus ID: 58432135
Background: Genetic diseases that affect the biosynthesis of protein O-glycans are a rapidly growing group of disorders. Because…
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