Pastore MT

No ORCID on file · 1 paper in corpus · active 2011
2011
Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.
American journal of medical genetics. Part A ·doi:10.1002/ajmg.a.34336

Classical Hutchinson-Gilford progeria syndrome (HGPS) is caused by LMNA mutations that generate an alternatively spliced form of lamin A, termed progerin. HGPS patients present in early childhood with atherosclerosis and striking features o…