A Keratin 14 Mutational Hot Spot for Epidermolysis Bullosa Simplex, Dowling-Meara: Implications for Diagnosis

This publication has 15 references indexed in Scilit:

• A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering
  Nature, 1992
• Epidermolysis Bullosa Simplex (Dowling-Meara Type) Is a Genetic Disease Characterized by an Abnormal Keratin-Filament Network Involving Keratins K5 and K14
  Journal of Investigative Dermatology, 1991
• Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses
  Cell, 1991
• Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease
  Cell, 1991
• Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa
  Journal of the American Academy of Dermatology, 1991
• Epidermolysis Bullosa Simplex: Identification of a Kindred with Autosomal Recessive Transmission of the Weher‐Cockayne Variety
  Pediatric Dermatology, 1989
• A routine method for the establishment of permanent growing lymphoblastoid cell lines
  Human Genetics, 1986
• Complete sequence of a gene encoding a human type I keratin: sequences homologous to enhancer elements in the regulatory region of the gene.
  Proceedings of the National Academy of Sciences, 1985
• Epidermolysis Bullosa Simplex
  Archives of Dermatology, 1983
• EPIDERMOLYSIS BULLOSA RESEMBLING JUVENILE DERMATITIS HERPETIFORMIS.*
  British Journal of Dermatology, 1954