Identification of a novel mutation in the ANGPTL3 gene in two families diagnosed of familial hypobetalipoproteinemia without APOB mutation

Clinica Chimica Acta

Volumn 413, Issue 5-6, 2012, Pages 552-555

  Martín Campos, Jesús M ^a,c   Roig, Rosa ^a,b,c   Mayoral, Carme ^a,b,c   Martinez, Silvia ^a,b   Martí, Gertrudis ^d   Arroyo, Juan Antonio ^b   Julve, Josep ^c   Blanco Vaca, Francisco ^a,b,c,e  

^a BIOMEDICAL RESEARCH INSTITUTE SANT PAU IIB SANT PAU   (Spain)

^b HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^c INSTITUTO DE SALUD CARLOS III   (Spain)

^d Althaia   (Spain)

^e UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

Author keywords

ANGPTL3; Familial hypobetalipoproteinemia; Genetics

Indexed keywords

APOLIPOPROTEIN B; CHOLESTEROL; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; TRIACYLGLYCEROL;

ADULT; ANGIOPOIETIN LIKE 3 PROTEIN GENE; APOLIPOPROTEIN B GENE; ARTICLE; CHILD; CHOLESTEROL BLOOD LEVEL; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; DISEASE ASSOCIATION; ETHNIC GROUP; EXON; FAMILIAL HYPOBETALIPOPROTEINEMIA; FEMALE; FRAMESHIFT MUTATION; GENE; GENE AMPLIFICATION; GENE DELETION; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC SCREENING; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HYPOLIPEMIA; INTRON; LIPOPROTEIN BLOOD LEVEL; MALE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; SCHOOL CHILD; SPANISH; TRIACYLGLYCEROL BLOOD LEVEL;

ANGIOPOIETINS; APOLIPOPROTEINS B; HUMANS; HYPOBETALIPOPROTEINEMIAS; MUTATION; PHENOTYPE;

EID: 84856224394     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2011.11.020     Document Type: Article

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