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Analysis of naturally occurring mutations in the human lipodystrophy protein seipin reveals multiple potential pathogenic mechanisms

AIMS/HYPOTHESIS: In humans, disruption of the gene BSCL2, encoding the protein seipin, causes congenital generalised lipodystrophy (CGL) with severe insulin resistance and dyslipidaemia. While the causative gene has been known for over a decade, the molecular functions of seipin are only now being u...

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Main Authors: Sim, M. F. Michelle, Talukder, M. Mesbah Uddin, Dennis, Rowena J., O’Rahilly, Stephen, Edwardson, J. Michael, Rochford, Justin J.
格式: Artigo
語言:Inglês
出版: Springer Berlin Heidelberg 2013
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3824349/
https://ncbi.nlm.nih.gov/pubmed/23989774
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00125-013-3029-3
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