Article
Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes.
Human mutation - 1 Sept 2007
Moulson Casey L, Fong Loren G, Gardner Jennifer M, Farber Emily A, Go Gloriosa, Passariello Annalisa, Grange Dorothy K, Young Stephen G, Miner Jeffrey H
Abstract excerpt
Hutchinson-Gilford progeria syndrome (HGPS) is a rare precocious aging syndrome caused by mutations in LMNA that lead to synthesis of a mutant form of prelamin A, generally called progerin, that cannot be processed to mature lamin A. Most HGPS patients have a recurrent heterozygous de novo mutati...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.