Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan - Concepedia

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Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

DOI Full Paper Access

209

Citations

35

References

2012

Year

Tony Roscioli, Erik‐Jan Kamsteeg, Karen Buysse, Isabelle Maystadt, Jeroen van Reeuwijk, Christa van den Elzen, Ellen van Beusekom, Moniek Riemersma, Rolph Pfundt, Lisenka E.L.M. Vissers,

Nature Genetics

Mendelian DisorderGenetic DisorderInherited Metabolic DiseaseGlycobiologyDefective GlycosylationMolecular BiologyPathologyDegenerative DiseaseMedicineCell BiologyLysosomal Storage DiseaseGlycosylation

References

	Year	Citations

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