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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Bibliografiske detaljer
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
Format: Artigo
Sprog:Inglês
Udgivet: Blackwell Publishing Ltd 2009
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Articles
Online adgang: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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