Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

  title={Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome},
  author={M. Eriksson and W. Brown and Leslie B. Gordon and Michael W. Glynn and J. Singer and L. Scott and Michael R. Erdos and Christiane M. Robbins and Tracy Y. Moses and P. Berglund and A. Dutra and E. Pak and Sandra Durkin and Antonei B. Csoka and M. Boehnke and Thomas W. Glover and Francis S. Collins},
  • M. Eriksson, W. Brown, +14 authors Francis S. Collins
  • Published 2003
  • Biology, Medicine
  • Nature
  • Hutchinson–Gilford progeria syndrome (HGPS) is a rare genetic disorder characterized by features reminiscent of marked premature ageing. [...] Key Result Sequencing of LMNA, located in this interval and previously implicated in several other heritable disorders, revealed that 18 out of 20 classical cases of HGPS harboured an identical de novo (that is, newly arisen and not inherited) single-base substitution, G608G(GGC > GGT), within exon 11.Expand Abstract
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    Mutations in the LMNA gene encoding lamin A/C
    • 96
    Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis.
    • 70
    Progeria: a human-disease model of accelerated aging.
    • W. Brown
    • Medicine
    • The American journal of clinical nutrition
    • 1992
    • 82
    Del(1)(q23) in a patient with Hutchinson-Gilford progeria.
    • 20
    Evidence for autosomal recessive inheritance of progeria (Hutchinson Gilford).
    • A. Maciel
    • Biology, Medicine
    • American journal of medical genetics
    • 1988
    • 26