Clinical and molecular characterization of a severe form of partial lipodystrophy expanding the phenotype of PPARγ deficiency

Familial partial lipodystrophy (FPLD) is characterized by abnormal fat distribution and a metabolic syndrome with hypertriglyceridemia. We identified a family with a severe form of FPLD3 with never-reported clinical features and a novel mutation affecting the DNA binding domain of PPARγ (E157D). Apa...

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Hlavní autoři: Campeau, Philippe M., Astapova, Olga, Martins, Rebecca, Bergeron, Jean, Couture, Patrick, Hegele, Robert A., Leff, Todd, Gagné, Claude
Médium: Artigo
Jazyk:Inglês
Vydáno: The American Society for Biochemistry and Molecular Biology 2012
Témata:
Patient-Oriented and Epidemiological Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3413236/
https://ncbi.nlm.nih.gov/pubmed/22750678
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1194/jlr.P025437
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