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

Peter M Steijlen, Maurice A M van Steensel, Bastiaan J H Jansen, Willeke Blokx, Peter C M van de Kerkhof, Rudolf Happle, Michel van Geel

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)1321-4
Number of pages4
JournalJournal of Investigative Dermatology
Volume122
Issue number5
DOIs
Publication statusPublished - May 2004

Keywords

  • 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

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