Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: when missense doesn't make sense

J Invest Dermatol. 2005 Apr;124(4):863-6. doi: 10.1111/j.0022-202X.2005.23650.x.
No abstract available

Publication types

  • Letter

MeSH terms

  • Child
  • Collagen Type VII / genetics*
  • Epidermolysis Bullosa Dystrophica / genetics*
  • Female
  • Genes, Recessive
  • Genetic Heterogeneity
  • Genotype
  • Humans
  • Male
  • Mutation, Missense*
  • Phenotype
  • RNA Splice Sites / genetics

Substances

  • Collagen Type VII
  • RNA Splice Sites