Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519→Cys base substitution using conformation sensitive gel electrophoresis

Charlene J. Williams, Matthew Rock, Eileen Considine, Seamus Mccarron, Peter Gow, Roger Ladda, David Mclain, Virginia M. Michels, William Murphy, Darwin J. Prockop, Arupa Ganguly

Research output: Contribution to journalComment/debate

62 Scopus citations
Original languageEnglish (US)
Pages (from-to)309-312
Number of pages4
JournalHuman molecular genetics
Volume4
Issue number2
DOIs
StatePublished - Feb 1 1995

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Cite this

Williams, C. J., Rock, M., Considine, E., Mccarron, S., Gow, P., Ladda, R., Mclain, D., Michels, V. M., Murphy, W., Prockop, D. J., & Ganguly, A. (1995). Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519→Cys base substitution using conformation sensitive gel electrophoresis. Human molecular genetics, 4(2), 309-312. https://doi.org/10.1093/hmg/4.2.309