Pseudoxanthoma elasticum: evidence for the existence of a pseudogene highly homologous to the ABCC6 gene

J Med Genet. 2001 Jul;38(7):457-61. doi: 10.1136/jmg.38.7.457.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adolescent
  • Amino Acid Sequence
  • Codon, Nonsense / genetics
  • DNA Mutational Analysis
  • Exons / genetics
  • Female
  • Frameshift Mutation / genetics
  • Genetic Testing
  • Humans
  • Molecular Sequence Data
  • Multidrug Resistance-Associated Proteins / genetics*
  • Mutation / genetics*
  • Prenatal Diagnosis
  • Pseudogenes / genetics*
  • Pseudoxanthoma Elasticum / diagnosis*
  • Pseudoxanthoma Elasticum / genetics*
  • RNA, Messenger / analysis
  • RNA, Messenger / genetics
  • Reproducibility of Results
  • Research Design
  • Sequence Deletion / genetics

Substances

  • ABCC6 protein, human
  • Codon, Nonsense
  • Multidrug Resistance-Associated Proteins
  • RNA, Messenger