Genotype-phenotype correlation in non-Hallopeau-Siemens recessive dystrophic epidermolysis bullosa: the splice site mutation c.6216+5G > T in the COL7A1 gene results in aberrant and normal splicings

J Dermatol Sci. 2008 May;50(2):147-50. doi: 10.1016/j.jdermsci.2007.12.005. Epub 2008 Jan 22.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Alternative Splicing*
  • Codon, Nonsense*
  • Collagen Type VII / genetics*
  • DNA Mutational Analysis
  • Epidermolysis Bullosa Dystrophica / genetics*
  • Epidermolysis Bullosa Dystrophica / pathology
  • Female
  • Genotype
  • Guanine
  • Humans
  • Phenotype
  • RNA Splice Sites*
  • Thymine

Substances

  • Codon, Nonsense
  • Collagen Type VII
  • RNA Splice Sites
  • Guanine
  • Thymine