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

• Ngā kaituhi matua: Dussaillant Catalina (Author), Serrano Valentina (Author), Maiz Alberto (Author), Eyheramendy Susana (Author), Cataldo Luis (Author), Chavez Matías (Author), Smalley Susan V (Author), Fuentes Marcela (Author), Rigotti Attilio (Author), Rubio Lorena (Author), Lagos Carlos F (Author), Martinez José (Author), Santos José (Author)
• Hōputu: Pukapuka
• I whakaputaina: BMC, 2012-11-01T00:00:00Z.
• Ngā marau: article
• Urunga tuihono: 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...