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A novel APOC2 gene mutation identified in a Chinese patient with severe hypertriglyceridemia and recurrent pancreatitis

BACKGROUND: The severe forms of hypertriglyceridemia are usually caused by genetic defects. In this study, we described a Chinese female with severe hypertriglyceridemia caused by a novel homozygous mutation in the APOC2 gene. METHODS: Lipid profiles of the pedigree were studied in detail. LPL and H...

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Detalles Bibliográficos
Autores principales: Jiang, Jingjing, Wang, Yuhui, Ling, Yan, Kayoumu, Abudurexiti, Liu, George, Gao, Xin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4715280/
https://www.ncbi.nlm.nih.gov/pubmed/26772541
http://dx.doi.org/10.1186/s12944-015-0171-6