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Comprehensive description of the phenotype of the first case of congenital disorder of glycosylation due to RFT1 deficiency (CDG In)

✍ Scribed by Clayton, P. T.; Grunewald, S.


Book ID
120513046
Publisher
Springer
Year
2009
Tongue
English
Weight
93 KB
Volume
32
Category
Article
ISSN
0141-8955

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A defect of the dolichyl-P-Man:Man5GlcNAc2-PP-dolichyl mannosyltransferase encoded by the ALG3 gene (alias NOT56L) causes congenital disorder of glycosylation type Id (CDG-Id). In this work, a new mutation in the ALG3 gene causing atypical splicing is described with characterization of expression le