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.; Temeloglu, E.; KUBAT ÜZÜM, Ayşe; Kadioglu, P.; ALTAY, CANAN; Ozen, S.; Demir, L.; Cavdar, U.; AKINCI, BARIŞ

doi:10.1111/dme.13061

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., KUBAT ÜZÜM A., Kadioglu P., ...Daha Fazla

DIABETIC MEDICINE, cilt.33, sa.10, ss.1445-1450, 2016 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 33 Sayı: 10
Basım Tarihi: 2016
Doi Numarası: 10.1111/dme.13061
Dergi Adı: DIABETIC MEDICINE
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.1445-1450
Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
Dokuz Eylül Üniversitesi Adresli: Evet

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.