Article ID Journal Published Year Pages File Type
5588424 Metabolism 2017 11 Pages PDF
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.
Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Endocrinology
Authors
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