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PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy

CONTEXT: Monogenic partial lipodystrophy is a genetically heterogeneous disease where only variants with specific genetic mechanisms are causative. Three heterozygous protein extending frameshift variants in PLIN1 have been reported to cause a phenotype of partial lipodystrophy and insulin resistanc...

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Detalles Bibliográficos
Autores principales:	Laver, Thomas W, Patel, Kashyap A, Colclough, Kevin, Curran, Jacqueline, Dale, Jane, Davis, Nikki, Savage, David B, Flanagan, Sarah E, Ellard, Sian, Hattersley, Andrew T, Weedon, Michael N
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Endocrine Society 2018
Materias:	Clinical Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6126890/ https://www.ncbi.nlm.nih.gov/pubmed/30020498 http://dx.doi.org/10.1210/jc.2017-02662

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