The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress

Dunnigan-type familial partial lipodystrophy (FPLD) is a laminopathy characterized by an aberrant fat distribution and a metabolic syndrome for which oxidative stress has recently been suggested as one of the disease-causing mechanisms. In a family affected with FPLD, we identified a heterozygous mi...

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Main Authors: Verstraeten, Valerie LRM, Caputo, Sandrine, Van Steensel, Maurice AM, Duband-Goulet, Isabelle, Zinn-Justin, Sophie, Kamps, Miriam, Kuijpers, Helma JH, Östlund, Cecilia, Worman, Howard J, Briedé, Jacob J, Le Dour, Caroline, Marcelis, Carlo LM, Van Geel, Michel, Steijlen, Peter M, Van Den Wijngaard, Arthur, Ramaekers, Frans CS, Broers, Jos LV
格式: Artigo
語言:Inglês
出版: Blackwell Publishing Ltd 2009
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Articles
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3823411/
https://ncbi.nlm.nih.gov/pubmed/19220582
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1582-4934.2009.00690.x
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