A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex

Hum Mol Genet. 1994 Jul;3(7):1171-2. doi: 10.1093/hmg/3.7.1171.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Base Sequence
  • Codon / genetics
  • DNA Mutational Analysis
  • Epidermolysis Bullosa Simplex / classification
  • Epidermolysis Bullosa Simplex / genetics*
  • Female
  • Genes
  • Humans
  • Keratins / chemistry
  • Keratins / genetics*
  • Molecular Sequence Data
  • Point Mutation*
  • Polymerase Chain Reaction
  • Protein Structure, Secondary
  • Sequence Alignment
  • Sequence Homology, Amino Acid

Substances

  • Codon
  • Keratins

Associated data

  • GENBANK/D28807