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Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies

  • Yiumo Michael Chan
  • , Elizabeth Keramaris-Vrantsis
  • , Hart G. Lidov
  • , James H. Norton
  • , Natalia Zinchenko
  • , Helen E. Gruber
  • , Randy Thresher
  • , Derek J. Blake
  • , Jignya Ashar
  • , Jeffrey Rosenfeld
  • , Qi L. Lu

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Article numberddq314
Pages (from-to)3995-4006
Number of pages12
JournalHuman Molecular Genetics
Volume19
Issue number20
DOIs
StatePublished - Oct 15 2010
Externally publishedYes

Keywords

  • Animals
  • Blotting, Southern
  • Blotting, Western
  • Brain/embryology
  • Dystroglycans/metabolism
  • Eye/embryology
  • Fluorescent Antibody Technique
  • Gene Deletion
  • Gene Expression
  • Gene Knock-In Techniques
  • Glycosylation
  • Malformations of Cortical Development, Group II
  • Mice
  • Mice, Knockout
  • Models, Animal
  • Muscle Development
  • Muscle, Skeletal/embryology
  • Muscular Dystrophy, Animal/genetics
  • Mutation, Missense
  • Pentosyltransferases
  • Polymerase Chain Reaction
  • Protein Processing, Post-Translational
  • Proteins/genetics
  • Transferases

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