Associated Papers
Generation of human induced pluripotent stem cell line (AOUMEYi001-A) from a patient affected by Congenital disorders of glycosylation (ALG8-CDG) using self-replicating RNA vector.
Tonin R et al.
Stem Cell Research, 2023
Individuals heterozygous for ALG8 protein-truncating variants are at increased risk of a mild cystic kidney disease.
Apple B et al.
Kidney International, 2023
Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.
Mantovani V et al.
Frontiers in Genetics, 2020
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