Coronary Artery Disease in a Werner Syndrome-Like Form of Progeria Characterized by Low Levels of Progerin, a Splice Variant of Lamin A

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 of accelerated aging. We report on two pedigrees of adult-ons...

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Publicado en:Am J Med Genet A
Main Authors: Hisama, Fuki M., Lessel, Davor, Leistritz, Dru, Friedrich, Katrin, McBride, Kim L., Pastore, Matthew T., Gottesman, Gary S., Saha, Bidisha, Martin, George M., Kubisch, Christian, Oshima, Junko
Formato: Artigo
Idioma:Inglês
Publicado: 2011
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4679285/
https://ncbi.nlm.nih.gov/pubmed/22065502
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.34336
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