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Nonsense-codon-mediated decay in human hereditary complement C3 deficiency

✍ Scribed by EdimaraS. Reis; Victor Nudelman; Lourdes Isaac


Publisher
Springer-Verlag
Year
2004
Tongue
English
Weight
283 KB
Volume
55
Category
Article
ISSN
0093-7711

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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