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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...

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Detalles Bibliográficos
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