Title : A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.

Pub. Date : 2016 Feb

PMID : 25966638






1 Functional Relationships(s)
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1 All affected patients were shown to have a novel homozygous splice variant NM_024740.2: c.1173+2T>A in the ALG9 gene, encoding alpha-1,2-mannosyltransferase, involved in the formation of the lipid-linked oligosaccharide precursor of N-glycosylation. lipid-linked oligosaccharides ALG9 alpha-1,2-mannosyltransferase Homo sapiens