Cryptic splicing at a non-consensus splice-donor in a patient with a novel mutation in the plakophilin-1 gene

J Invest Dermatol. 2004 May;122(5):1321-4. doi: 10.1111/j.0022-202X.2003.22302.x.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Base Sequence
  • Consensus Sequence
  • Humans
  • Male
  • Molecular Sequence Data
  • Plakophilins
  • Point Mutation*
  • Proteins / genetics*
  • RNA Splice Sites / genetics*
  • RNA Splicing / genetics*
  • Skin Diseases / genetics*

Substances

  • PKP1 protein, human
  • Plakophilins
  • Proteins
  • RNA Splice Sites