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, HÜSEYİN; Savage, D.; Temeloglu, E.; Uzum, A.; Kadioglu, P.; Altay, C.; ÖZEN, SAMİM; DEMIR, L.; Cavdar, U.; Akinci, B.

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

Atıf İçin Kopyala

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

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

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
Hacettepe Üniversitesi Adresli: Hayır

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.