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A Novel APOC2 Mutation in a Colombian Patient with Recurrent Hypertriglyceridemic Pancreatitis
Hypertriglyceridemia is a common disease with only 2% of cases exhibiting monogenic mutations. Familial chylomicronemia syndrome (FCS) is a rare genetic condition associated with recurrent and severe episodes of pancreatitis and is mainly caused by mutations in the LPL gene, with few cases related t...
Autores principales: | Pinilla-Monsalve, Gabriel D, Lores, Juliana, Pachajoa, Harry, López-Ponce de León, Juan D, López, Alejandro, Rodríguez-Rojas, Lisa X, Nastasi-Catanese, José A |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7125404/ https://www.ncbi.nlm.nih.gov/pubmed/32280258 http://dx.doi.org/10.2147/TACG.S243148 |
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