Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan

  • Elizabeth Stevens
  • , Keren J. Carss
  • , Sebahattin Cirak
  • , A. Reghan Foley
  • , Silvia Torelli
  • , Tobias Willer
  • , Dimira E. Tambunan
  • , Shu Yau
  • , Lina Brodd
  • , Caroline A. Sewry
  • , Lucy Feng
  • , Goknur Haliloglu
  • , Diclehan Orhan
  • , William B. Dobyns
  • , Gregory M. Enns
  • , Melanie Manning
  • , Amanda Krause
  • , Mustafa A. Salih
  • , Christopher A. Walsh
  • , Matthew Hurles
    • Kevin P. Campbell, M. Chiara Manzini, Derek Stemple, Yung Yao Lin, Francesco Muntoni

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

165 Scopus citations

Fingerprint

Dive into the research topics of 'Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan'. Together they form a unique fingerprint.

Keyphrases

Biochemistry, Genetics and Molecular Biology