A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375

Hum Mol Genet. 1993 Nov;2(11):1971-2. doi: 10.1093/hmg/2.11.1971.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • DNA Primers
  • Epidermolysis Bullosa Simplex / genetics*
  • Exons
  • Glutamates*
  • Glutamic Acid
  • Humans
  • Introns
  • Keratins / chemistry*
  • Keratins / genetics*
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Protein Structure, Secondary*
  • Sequence Deletion*

Substances

  • DNA Primers
  • Glutamates
  • Glutamic Acid
  • Keratins