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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Bibliografiset tiedot
Julkaisussa:Am J Med Genet A
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2011
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Article
Linkit: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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