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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

dc.contributor.authorKadioglu, P.
dc.contributor.authorDemir, L.
dc.contributor.authorCavdar, U.
dc.contributor.authorAkinci, B.
dc.contributor.authorUzum, Ayşe Kubat
dc.contributor.authorDemir, T.
dc.contributor.authorONAY, HÜSEYİN
dc.contributor.authorSavage, D.B.
dc.contributor.authorTemeloglu, E.
dc.contributor.authorAltay, C.
dc.contributor.authorÖZEN, SAMİM
dc.date.accessioned2021-03-03T08:13:26Z
dc.date.available2021-03-03T08:13:26Z
dc.date.issued2016
dc.identifier.citationDemir T., ONAY H., Savage D., Temeloglu E., Uzum A. K. , Kadioglu P., Altay C., ÖZEN S., Demir L., Cavdar U., et al., "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", DIABETIC MEDICINE, cilt.33, sa.10, ss.1445-1450, 2016
dc.identifier.issn0742-3071
dc.identifier.othervv_1032021
dc.identifier.otherav_16571e42-5a3c-4fda-8837-d4a329318fc4
dc.identifier.urihttp://hdl.handle.net/20.500.12627/20360
dc.identifier.urihttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84987814220&origin=inward
dc.identifier.urihttps://doi.org/10.1111/dme.13061
dc.description.abstractAimsTo 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.
dc.language.isoeng
dc.subjectENDOKRİNOLOJİ VE METABOLİZMA
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectİç Hastalıkları
dc.subjectEndokrinoloji ve Metabolizma Hastalıkları
dc.titleFamilial 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
dc.typeMakale
dc.relation.journalDIABETIC MEDICINE
dc.contributor.departmentDokuz Eylül Üniversitesi , ,
dc.identifier.volume33
dc.identifier.issue10
dc.identifier.startpage1445
dc.identifier.endpage1450
dc.contributor.firstauthorID108187


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