TY - JOUR T1 - A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt \& pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation AU - Boccuto, L. AU - Aoki, K. AU - Flanagan-Steet, H. AU - Chen, C.-F. AU - Fan, X. AU - Bartel, F. AU - Petukh, M. AU - Pittman, A. AU - Saul, R. AU - Chaubey, A. AU - others, JO - Human molecular genetics PY - 2014 PB - Oxford University Press VL - 23 IS - 2 SP - 418 EP - 433 ER -