Familial partial lipodystrophy linked to a novel peroxisome proliferator activator receptor -gamma (PPARG) mutation, H449L: a comparison of people with this mutation and those with classic codon 482 Lamin A/C (LMNA) mutations


Demir T., ONAY H., Savage D. B. , Temeloglu E., Uzum A. K. , Kadioglu P., ...Daha Fazla

DIABETIC MEDICINE, cilt.33, ss.1445-1450, 2016 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 33 Konu: 10
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1111/dme.13061
  • Dergi Adı: DIABETIC MEDICINE
  • Sayfa Sayıları: ss.1445-1450

Özet

AimsTo 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 - (PPARG) mutation with those of a cluster of patients with familial partial lipodystrophy with classic codon 482 Lamin A/C (LMNA) mutations.