SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function

Hum Mol Genet. 1995 Oct;4(10):2003-4. doi: 10.1093/hmg/4.10.2003.
No abstract available

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Codon
  • DNA Primers
  • Exons
  • Humans
  • Membrane Proteins / genetics*
  • Membrane Proteins / metabolism
  • Molecular Sequence Data
  • Muscular Dystrophies / genetics*
  • Nuclear Proteins
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational*
  • Reference Values
  • Thymopoietins / genetics*
  • Thymopoietins / metabolism
  • Transcription, Genetic

Substances

  • Codon
  • DNA Primers
  • Membrane Proteins
  • Nuclear Proteins
  • Thymopoietins
  • emerin

Associated data

  • GENBANK/X86810