Roscioli et al., 2012 - Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan. Nature Genetics   44(5):581-585 Full text @ Nat. Genet.
3 Genes / Markers
Marker Type Symbol Name
Gene crppa CDP-L-ribitol pyrophosphorylase A
Gene fkrp fukutin related protein
Gene fktn fukutin
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