A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation

Boccuto, Luigi ; Aoki, Kazuhiro ; Flanagan-Steet, Heather ; Chen, Chin-Fu ; Fan, Xiang ; Bartel, Frank ; Petukh, Marharyta ; Pittman, Ayla ; Saul, Robert ; Chaubey, Alka ; Alexov, Emil ; Tiemeyer, Michael ; Steet, Richard ; Schwartz, Charles E

Human molecular genetics, 2014-01, Vol.23 (2), p.418-433 [Periódico revisado por pares]

England: Oxford University Press

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