Article
Familial partial lipodystrophy linked to a novel peroxisome proliferator activator receptor -γ (PPARG) mutation, H449L: a comparison of people with this mutation and those with classic codon 482 Lamin A/C (LMNA) mutations.
Diabetic medicine : a journal of the British Diabetic Association - 1 Oct 2016
Demir T, Onay H, Savage D B, Temeloglu E, Uzum A K, Kadioglu P, Altay C, Ozen S, Demir L, Cavdar U, Akinci B
Abstract excerpt
AIMS: To describe the phenotype associated with a novel heterozygous missense PPARG mutation discovered in a Turkish family and to compare the fat distribution and metabolic characteristics of subjects with the peroxisome proliferator activator receptor -γ (PPARG) mutation with those of a cluster of patients with familial partial lipodystrophy with classic codon 482 Lamin A/C (LMNA) mutations. METHODS: The study...
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