Compound heterozygosity for a novel and a recurrent ABCC6 gene mutation in an Italian family with Pseudoxanthoma elasticum

J Dermatol Sci. 2008 Mar;49(3):252-5. doi: 10.1016/j.jdermsci.2007.09.006. Epub 2007 Oct 29.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adult
  • Aged
  • Amino Acid Sequence
  • Female
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Multidrug Resistance-Associated Proteins / chemistry
  • Multidrug Resistance-Associated Proteins / genetics*
  • Mutation*
  • Pseudoxanthoma Elasticum / genetics*
  • Recurrence

Substances

  • ABCC6 protein, human
  • Multidrug Resistance-Associated Proteins