Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome

J Med Genet. 2004 Aug;41(8):609-14. doi: 10.1136/jmg.2004.019661.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Aging, Premature / genetics
  • Child
  • Child, Preschool
  • DNA Mutational Analysis / methods
  • Female
  • Genes, Recessive / genetics*
  • Genetic Carrier Screening
  • Genetic Linkage / genetics
  • Humans
  • India
  • Lamin Type A / genetics*
  • Loss of Heterozygosity / genetics*
  • Male
  • Mutation, Missense / genetics*
  • Pedigree
  • Progeria / genetics*
  • Progeria / pathology

Substances

  • Lamin Type A
  • lamin C

Associated data

  • OMIM/181350
  • OMIM/604929