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

BMC Medical Genetics

Volumn 13, Issue , 2012, Pages

  Dussaillant, Catalina ^a   Serrano, Valentina ^a   Maiz, Alberto ^a   Eyheramendy, Susana ^a   Cataldo, Luis R ^a   Chavez, Matías ^a   Smalley, Susan V ^a   Fuentes, Marcela ^a   Rigotti, Attilio ^a   Rubio, Lorena ^a   Lagos, Carlos F ^a   Martinez, José A ^b   Santos, José L ^a  

^a PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE   (Chile)

^b UNIVERSITY OF NAVARRA   (Spain)

Author keywords

APOA5; Chylomicronemia; Genetic; Homozygosity mapping; Hypertriglyceridemia; Mutation

Indexed keywords

APOLIPOPROTEIN A5;

ADULT; AGED; ARTICLE; CHILE; CHROMOSOME; CHROMOSOME 11; CLINICAL ARTICLE; FAMILY; FEMALE; GENE LOCUS; GENE MAPPING; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC LINKAGE; GENOTYPE; HOMOZYGOSITY; HUMAN; HYPERTRIGLYCERIDEMIA; MALE; MUTATION; NONSENSE MUTATION; SINGLE NUCLEOTIDE POLYMORPHISM;

APOLIPOPROTEINS A; CHILE; CONSANGUINITY; FEMALE; GENETIC LINKAGE; HOMOZYGOTE; HUMANS; HYPERTRIGLYCERIDEMIA; MIDDLE AGED; MUTATION; PEDIGREE;

EID: 84868708551     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-13-106     Document Type: Article

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