Epidermolysis bullosa simplex (Weber-Cockayne) associated with a novel missense mutation of Asp328 to Val in Linker 12 domain of keratin 5

Hum Mol Genet. 1995 Oct;4(10):1999-2000. doi: 10.1093/hmg/4.10.1999.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Aspartic Acid*
  • Base Sequence
  • DNA Primers
  • Epidermolysis Bullosa Simplex / genetics*
  • Female
  • Humans
  • Keratins / genetics*
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Point Mutation*
  • Polymerase Chain Reaction
  • Reference Values
  • Valine*

Substances

  • DNA Primers
  • Aspartic Acid
  • Keratins
  • Valine

Associated data

  • GENBANK/D50666
  • GENBANK/J00124
  • GENBANK/M21389