Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5588424 | Metabolism | 2017 | 11 Pages |
Abstract
We have identified various pathogenic variants scattered throughout the LMNA and PPARG genes in Turkish patients with FPLD. Phenotypic heterogeneity is remarkable in patients with LMNA pathogenic variants related to the site of missense mutations. FPLD, caused by pathogenic variants either in LMNA or PPARG is associated with metabolic abnormalities associated with insulin resistance that lead to increased morbidity.
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Authors
Baris Akinci, Huseyin Onay, Tevfik Demir, Åenay Savas-Erdeve, Ramazan Gen, Ilgin Yildirim Simsir, Fatma Ela Keskin, Mehmet Sercan Erturk, Ayse Kubat Uzum, Guzin Fidan Yaylali, Nilufer Kutbay Ozdemir, Tahir Atik, Samim Ozen, Banu Sarer Yurekli,