New PPARG mutation leads to lipodystrophy and loss of protein function that is partially restored by a synthetic ligand

PURPOSE: Familial partial lipodystrophy caused by mutations in the PPARG gene is characterised by altered distribution of subcutaneous fat, muscular hypertrophy and symptoms of metabolic syndrome. PPARG encodes peroxisome proliferator‐activated receptor (PPAR)γ, a nuclear hormone receptor playing a...

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Detalhes bibliográficos
Main Authors: Lüdtke, Angelika, Buettner, Janine, Schmidt, Hartmut H‐J, Worman, Howard J
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2007
Assuntos:
Online Mutation Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2597954/
https://ncbi.nlm.nih.gov/pubmed/17766367
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2007.050567
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