Lamin A expression levels are unperturbed at the normal and mutant alleles but display partial splice site selection in Hutchinson-Gilford progeria syndrome

J Med Genet. 2004 Sep;41(9):715-7. doi: 10.1136/jmg.2004.019323.
No abstract available

Publication types

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

MeSH terms

  • Aging, Premature / genetics*
  • Alleles*
  • Alternative Splicing / genetics
  • Base Sequence
  • DNA Mutational Analysis
  • Deoxyribonucleases, Type II Site-Specific / metabolism
  • Humans
  • Lamin Type A / genetics*
  • Mutation / genetics*
  • RNA Precursors / analysis
  • RNA Precursors / genetics
  • RNA Precursors / metabolism
  • RNA Splice Sites / genetics*
  • RNA Splicing / genetics*
  • RNA, Messenger / analysis
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Syndrome

Substances

  • Lamin Type A
  • RNA Precursors
  • RNA Splice Sites
  • RNA, Messenger
  • CCANNNNNNTGG-specific type II deoxyribonucleases
  • Deoxyribonucleases, Type II Site-Specific