A pharmacogenetic approach to the treatment of patients with PPARG mutations

Loss-of-function mutations in PPARG cause familial partial lipodystrophy type 3 (FPLD3) and severe metabolic disease in many cases. Missense mutations in PPARG are present in ~1:500 people. Whilst mutations are often binarily classified as ‘benign’ or ‘deleterious’, prospective functional classifica...

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Опубликовано в: :Diabetes
Главные авторы: Agostini, Maura, Schoenmakers, Erik, Beig, Junaid, Fairall, Louise, Szatmari, Istvan, Rajanayagam, Odelia, Muskett, Fred, Adams, Claire, Marais, A. David, O’Rahilly, Stephen, Semple, Robert K., Nagy, Laszlo, Majithia, Amit R., Schwabe, John, Blom, Dirk J., Murphy, Rinki, Chatterjee, Krishna, Savage, David B.
Формат: Artigo
Язык:Inglês
Опубликовано: 2018
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5967605/
https://ncbi.nlm.nih.gov/pubmed/29622583
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2337/db17-1236
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