Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia

Hum Mol Genet. 1994 Oct;3(10):1891-3. doi: 10.1093/hmg/3.10.1891.
No abstract available

Publication types

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

MeSH terms

  • Alternative Splicing*
  • Base Sequence
  • Child
  • DNA / blood
  • DNA / genetics
  • DNA Primers
  • Deoxyribonucleases, Type II Site-Specific
  • Exons
  • Female
  • Humans
  • Introns
  • Lymphocytes / metabolism
  • Male
  • Molecular Sequence Data
  • Mosaicism
  • Osteochondrodysplasias / genetics*
  • Polymerase Chain Reaction
  • Procollagen / genetics*
  • RNA, Messenger / metabolism
  • Restriction Mapping
  • Sequence Deletion*

Substances

  • DNA Primers
  • Procollagen
  • RNA, Messenger
  • DNA
  • endodeoxyribonuclease DdeI
  • Deoxyribonucleases, Type II Site-Specific