Hutchinson-Gilford progeria syndrome.

@article{Pollex2004HutchinsonGilfordPS,
  title={Hutchinson-Gilford progeria syndrome.},
  author={Rebecca L. Pollex and Robert A Hegele},
  journal={Clinical genetics},
  year={2004},
  volume={66 5},
  pages={375-81}
}
Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare genetic disorder that causes premature, rapid aging shortly after birth. Recently, de novo point mutations in the Lmna gene have been found in individuals with HGPS. Lmna encodes lamin A and C, the A-type lamins, which are an important structural component of the nuclear envelope. The most common HGPS mutation is located at codon 608 (G608G). This mutation creates a cryptic splice site within exon 11, which deletes a proteolytic… CONTINUE READING
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