A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation
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Title
A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation
Authors
Keywords
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Journal
HUMAN MOLECULAR GENETICS
Volume 23, Issue 2, Pages 418-433
Publisher
Oxford University Press (OUP)
Online
2013-09-12
DOI
10.1093/hmg/ddt434
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