Associated Papers
The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation.
Willer T et al.
Elife, 2014
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
Willer T et al.
Nature Genetics, 2012
22522420 (PubMed )
Supplement: NIHMS365606-supplement-1.pdf
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
Manzini MC et al.
Human Mutation, 2008
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