Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy

Hum Mol Genet. 1995 Oct;4(10):1853-7. doi: 10.1093/hmg/4.10.1853.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Base Sequence
  • Child
  • Chromosome Mapping
  • DNA Primers
  • Exons
  • Family
  • Female
  • Frameshift Mutation
  • Genetic Carrier Screening
  • Humans
  • Introns
  • Male
  • Molecular Sequence Data
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / physiopathology
  • Mutation*
  • Polymerase Chain Reaction
  • Sequence Deletion
  • X Chromosome*

Substances

  • DNA Primers