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Alternative splicing and nonsense-mediated mRNA decay in the regulation of a new adenomatous polyposis coli transcript

โœ Scribed by Marina De Rosa; Gemma Morelli; Elena Cesaro; Francesca Duraturo; Mimmo Turano; Giovanni B. Rossi; Paolo Delrio; Paola Izzo


Book ID
116507718
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
617 KB
Volume
395
Category
Article
ISSN
0378-1119

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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