Dystrophin and mutations: one gene, several proteins, multiple phenotypes

This publication has 130 references indexed in Scilit:

• Trans -acting factors may cause dystrophin splicing misregulation in BMD skeletal muscles
  FEBS Letters, 2003
• Improved antisense oligonucleotide induced exon skipping in the mdx mouse model of muscular dystrophy
  The Journal of Gene Medicine, 2002
• Analysis of 22 deletion breakpoints in dystrophin intron 49
  Human Genetics, 2002
• The muscular dystrophies
  Published by Elsevier ,2002
• Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?
  Human Genetics, 2001
• Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA)
  European Journal of Human Genetics, 1999
• Electroretinogram in Duchenne/Becker Muscular Dystrophy
  Pediatric Neurology, 1998
• Genomic Organization of the Human Dystrophin Gene across the Major Deletion Hot Spot and the 3′ Region
  Genomics, 1995
• Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16
  Human Molecular Genetics, 1994
• Sequences of junction fragments in the deletion-prone region of the dystrophin gene
  Genomics, 1991