EC Number   |
Title |
Organism |
|---|
   2.4.1.259 | A novel phenotype in N-glycosylation disorders Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9 |
Homo sapiens |
| 2.4.1.259 | ALg9 mutation carriers develop kidney and liver cysts |
Homo sapiens |
| 2.4.1.259 | ALG9-CDG New clinical case and review of the literature |
Homo sapiens |
| 2.4.1.259 | Further delineation of the ALG9-CDG phenotype |
Homo sapiens |
| 2.4.1.259 | ALG9 mannosyltransferase is involved in two different steps of lipid-linked oligosaccharide biosynthesis |
Saccharomyces cerevisiae |
| 2.4.1.259 | CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features |
Homo sapiens |
| 2.4.1.259 | Evolutionarily conserved glycan signal to degrade aberrant brassinosteroid receptors in Arabidopsis |
Arabidopsis thaliana |
| 2.4.1.259 | Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL |
Homo sapiens |
| 2.4.1.259 | Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient |
Homo sapiens |
| 2.4.1.259 | Systemic gene dysregulation in classical Galactosaemia: Is there a central mechanism? |
Homo sapiens |
