A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature review.
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DOI: 10.1002/mgg3.2197
Abstract: BACKGROUND The congenital disorder of glycosylation associated with ALG1 (ALG1-CDG) is a rare autosomal recessive disease. Due to the deficiency of β1,4 mannosyltransferase caused by pathogenic variants in ALG1 gene, the assembly and processing of… read more here.
Keywords: novel variant; glycosylation; alg1 gene; literature ... See more keywords