Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations

Ritelli, Marco, Chiarelli, Nicola, Zoppi, Nicoletta · Molecular Genetics and Metabolism Reports · 2015