Lipoid proteinosis: identification of two novel mutations in the human ECM-1 gene and lack of genotype-phenotype correlation

Acta Derm Venereol. 2009;89(5):528-9. doi: 10.2340/00015555-0673.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Amino Acid Substitution
  • Biopsy
  • Codon, Terminator
  • DNA Mutational Analysis
  • Exons
  • Extracellular Matrix Proteins / genetics*
  • Frameshift Mutation*
  • Genetic Predisposition to Disease
  • Homozygote
  • Humans
  • Lipoid Proteinosis of Urbach and Wiethe / genetics*
  • Lipoid Proteinosis of Urbach and Wiethe / pathology
  • Male
  • Middle Aged
  • Phenotype
  • Sequence Deletion*
  • Skin / pathology

Substances

  • Codon, Terminator
  • ECM1 protein, human
  • Extracellular Matrix Proteins