POMT1 mutation results in defective glycosylation ... [Neurology. 2004] - PubMed

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Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. [Am J Hum Genet. 2002]
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
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POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.

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