A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa

Hum Mol Genet. 1994 Oct;3(10):1909-10. doi: 10.1093/hmg/3.10.1909.
No abstract available

Publication types

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

MeSH terms

  • Abortion, Induced
  • Base Sequence
  • Biopsy
  • Consanguinity
  • DNA Primers
  • Epidermolysis Bullosa, Junctional / embryology
  • Epidermolysis Bullosa, Junctional / genetics*
  • Epidermolysis Bullosa, Junctional / pathology
  • Exons
  • Female
  • Fetus
  • Homozygote
  • Humans
  • Infant
  • Introns
  • Laminin / genetics*
  • Male
  • Molecular Sequence Data
  • Open Reading Frames
  • Pedigree
  • Point Mutation*
  • Polymerase Chain Reaction
  • Pregnancy
  • Skin / pathology

Substances

  • DNA Primers
  • Laminin