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

BACKGROUND: 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 levels (>112 mmol/L at diagnosis) were found in two sist...

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Detalles Bibliográficos
Autores principales: Dussaillant, Catalina, Serrano, Valentina, Maiz, Alberto, Eyheramendy, Susana, Cataldo, Luis Rodrigo, Chavez, Matías, Smalley, Susan V, Fuentes, Marcela, Rigotti, Attilio, Rubio, Lorena, Lagos, Carlos F, Martinez, José Alfredo, Santos, José Luis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3523038/
https://www.ncbi.nlm.nih.gov/pubmed/23151256
http://dx.doi.org/10.1186/1471-2350-13-106

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