APOA5 Q97X Mutation Identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family

• Autores principales: Dussaillant Catalina (Autor), Serrano Valentina (Autor), Maiz Alberto (Autor), Eyheramendy Susana (Autor), Cataldo Luis (Autor), Chavez Matías (Autor), Smalley Susan V (Autor), Fuentes Marcela (Autor), Rigotti Attilio (Autor), Rubio Lorena (Autor), Lagos Carlos F (Autor), Martinez José (Autor), Santos José (Autor)
• Formato: Libro
• Publicado: BMC, 2012-11-01T00:00:00Z.
• Materias: article
• Acceso en línea: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Severe hypertriglyceridemia (HTG) has been linked to defects in LPL, APOC2, APOA5, LMF1 and GBIHBP1 genes. However, a number of severe HTG cases are probably caused by as yet unidentified mutations. Very high triglyceride plasma leve...