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

  • Tobias Willer
  • , Hane Lee
  • , Mark Lommel
  • , Takako Yoshida-Moriguchi
  • , Daniel Beltran Valero De Bernabe
  • , David Venzke
  • , Sebahattin Cirak
  • , Harry Schachter
  • , Jiri Vajsar
  • , Thomas Voit
  • , Francesco Muntoni
  • , Andrea S. Loder
  • , William B. Dobyns
  • , Thomas L. Winder
  • , Sabine Strahl
  • , Katherine D. Mathews
  • , Stanley F. Nelson
  • , Steven A. Moore
  • , Kevin P. Campbell

Research output: Contribution to journal › Article › peer-review

209 Scopus citations

Fingerprint

Dive into the research topics of 'ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome'. Together they form a unique fingerprint.

Keyphrases

Biochemistry, Genetics and Molecular Biology