Article
Phenotype and course of Hutchinson-Gilford progeria syndrome.
The New England journal of medicine - 7 Feb 2008
Merideth Melissa A, Gordon Leslie B, Clauss Sarah, Sachdev Vandana, Smith Ann C M, Perry Monique B, Brewer Carmen C, Zalewski Christopher, Kim H Jeffrey, Solomon Beth, Brooks Brian P, Gerber Lynn H, Turner Maria L, Domingo Demetrio L, Hart Thomas C, Graf Jennifer, Reynolds James C, Gropman Andrea, Yanovski Jack A, Gerhard-Herman Marie, Collins Francis S, Nabel Elizabeth G, Cannon Richard O, Gahl William A, Introne Wendy J
Abstract excerpt
BACKGROUND: Hutchinson-Gilford progeria syndrome is a rare, sporadic, autosomal dominant syndrome that involves premature aging, generally leading to death at approximately 13 years of age due to myocardial infarction or stroke. The genetic basis of most cases of this syndrome is a change from glycine GGC to glycine GGT in codon 608 of the lamin A (LMNA) gene, which activates a cryptic splice donor site to...
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