@article{boccuto2014mutation,
  author = "L. Boccuto and K. Aoki and H. Flanagan-Steet and C.-F. Chen and X. Fan and F. Bartel and M. Petukh and A. Pittman and R. Saul and A. Chaubey and others",
  title = "A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt \& pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation",
  year = 2014,
  journal = "Human molecular genetics",
  publisher = "Oxford University Press",
  volume = 23,
  number = 2,
  pages = "418-433"
}