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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no: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 em: 2011
Assuntos:
Article
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados