A novel APOA5 splicing mutation IVS2+1g>a in a Japanese chylomicronemia patient

Atherosclerosis

Volumn 207, Issue 1, 2009, Pages 24-25

  Okubo, Minoru ^a,b   Ishihara, Mitsuaki ^c   Iwasaki, Tadao ^c   Ebara, Tetsu ^a   Aoyama, Yoshiko ^a   Murase, Toshio ^a   Hattori, Hiroaki ^c  

^a Okinaka Memorial Institute for Medical Research   (Japan)

^b TORANOMON HOSPITAL   (Japan)

^c BML   (Japan)

Author keywords

APOA5; Apolipoprotein A V; Chylomicronemia; Lipoprotein lipase; Pancreatitis; Splicing mutation

Indexed keywords

ADENINE; APOLIPOPROTEIN A1; APOLIPOPROTEIN A5; APOLIPOPROTEIN B; APOLIPOPROTEIN C2; APOLIPOPROTEIN C3; APOLIPOPROTEIN E; BEZAFIBRATE; CHOLESTEROL; CHYLOMICRON; GUANINE; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; TRIACYLGLYCEROL;

ADULT; AGAR GEL ELECTROPHORESIS; BLOOD ANALYSIS; CASE REPORT; ENZYME LINKED IMMUNOSORBENT ASSAY; GENE MUTATION; HAPLOTYPE; HETEROZYGOSITY; HUMAN; HYPERLIPOPROTEINEMIA TYPE 1; HYPERTRIGLYCERIDEMIA; INTRON; JAPANESE; LETTER; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

APOLIPOPROTEINS A; ASIAN CONTINENTAL ANCESTRY GROUP; DNA MUTATIONAL ANALYSIS; HETEROZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE I; INTRONS; JAPAN; MALE; MIDDLE AGED; MUTATION; RNA SPLICE SITES;

EID: 70350582764     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2009.03.046     Document Type: Letter

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