ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome - Concepedia

Concepedia

Publication | Open Access

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

DOI Full Paper Access

237

Citations

29

References

2012

Year

Tobias Willer, Hane Lee, Mark Lommel, Takako Yoshida‐Moriguchi, Daniel Beltrán Valero de Bernabé, David Venzke, Sebahattin Çirak, Harry Schachter, Jiri Vajsar, Thomas Voït,

Nature Genetics

Somatic VariantMendelian DisorderGenetic DisorderWalker-warburg SyndromeMolecular BiologyPathologyDegenerative DiseaseMedicineLysosomal Storage Disease

References

	Year	Citations

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