Cargando…
Peroxisomal proliferator activated receptor-γ deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3)
BACKGROUND: Familial partial lipodystrophy (Dunnigan) type 3 (FPLD3, Mendelian Inheritance in Man [MIM] 604367) results from heterozygous mutations in PPARG encoding peroxisomal proliferator-activated receptor-γ. Both dominant-negative and haploinsufficiency mechanisms have been suggested for this c...
Autores principales: | Francis, Gordon A, Li, Gang, Casey, Robin, Wang, Jian, Cao, Henian, Leff, Todd, Hegele, Robert A |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2006
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1368963/ https://www.ncbi.nlm.nih.gov/pubmed/16412238 http://dx.doi.org/10.1186/1471-2350-7-3 |
Ejemplares similares
-
Familial Partial Lipodystrophy (FPLD): Recent Insights
por: Bagias, Christos, et al.
Publicado: (2020) -
Polycystic ovary syndrome in familial partial lipodystrophy type 2 (FPLD2): basic and clinical aspects
por: Gambineri, Alessandra, et al.
Publicado: (2018) -
MON-695 Multiple Recurrent Lipomatoses with Thiazolidinedione Therapy in Familial Partial Lipodystrophy, Dunnigan Variety (FPLD2)
por: Patni, Nivedita, et al.
Publicado: (2020) -
Familial Partial Lipodystrophy—Literature Review and Report of a Novel Variant in PPARG Expanding the Spectrum of Disease-Causing Alterations in FPLD3
por: Rutkowska, Lena, et al.
Publicado: (2022) -
Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia
por: Cao, Henian, et al.
Publicado: (2008)