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CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
Known as:
CDGId
, Congenital disorder of glycosylation type 1D
, CDGS, TYPE IV, FORMERLY
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A congenital disorder of glycosylation sub-type caused by mutation(s) in the ALG3 gene, encoding dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3…
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National Institutes of Health
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Related topics
Related topics
21 relations
ALG3 gene
Arthrogryposis
Autosomal recessive inheritance
Bifid uvula
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Broader (1)
Congenital Disorders of Glycosylation
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2008
2008
Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient
A. Rimella-Le-Huu
,
Hugues Henry
,
+6 authors
D. Ballhausen
Journal of Inherited Metabolic Disease
2008
Corpus ID: 35627637
SummaryCongenital disorders of glycosylation (CDG) are a family of multisystem inherited disorders caused by defects in the…
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