Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes

J Med Genet. 2004 Apr;41(4):304-8. doi: 10.1136/jmg.2003.015651.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Cell Line
  • Cell Nucleus / ultrastructure
  • DNA Mutational Analysis
  • Genotype
  • Humans
  • Lamin Type A / genetics*
  • Microscopy, Fluorescence
  • Mutation*
  • Phenotype
  • Progeria / diagnosis
  • Progeria / genetics*
  • Progeria / ultrastructure
  • Syndrome

Substances

  • Lamin Type A
  • lamin C