Two new mutations affecting the donor splice site of COL3A1 IVS37 and causing skipping of exon 37 in patients with Ehlers-Danlos syndrome type IV

Hum Mol Genet. 1994 Oct;3(10):1901-2. doi: 10.1093/hmg/3.10.1901.
No abstract available

Publication types

  • Comparative Study

MeSH terms

  • Base Sequence
  • Collagen / genetics*
  • DNA Primers
  • Ehlers-Danlos Syndrome / genetics*
  • Exons*
  • Female
  • Humans
  • Introns
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • Polymerase Chain Reaction
  • RNA Splicing*
  • Reference Values

Substances

  • DNA Primers
  • Collagen