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

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

<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...

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Bibliographic Details
Main Authors: Dussaillant Catalina, Serrano Valentina, Maiz Alberto, Eyheramendy Susana, Cataldo Luis, Chavez Matías, Smalley Susan V, Fuentes Marcela, Rigotti Attilio, Rubio Lorena, Lagos Carlos F, Martinez José, Santos José
Format: Article
Language:English
Published: BMC 2012-11-01
Series:BMC Medical Genetics
Subjects:
Hypertriglyceridemia
Genetic
Chylomicronemia
Mutation
Homozygosity mapping
APOA5
Online Access:http://www.biomedcentral.com/1471-2350/13/106

Internet

http://www.biomedcentral.com/1471-2350/13/106

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