Apolipoprotein C-II Tuzla: A novel large deletion in APOC2 caused by Alu-Alu homologous recombination in an infant with apolipoprotein C-II deficiency

Clinica Chimica Acta

Volumn 438, Issue , 2014, Pages 148-153

  Okubo, Minoru ^a,b   Toromanovic, Alma ^c   Ebara, Tetsu ^a   Murase, Toshio ^a  

^a Okinaka Memorial Institute for Medical Research   (Japan)

^b TORANOMON HOSPITAL   (Japan)

^c University Clinical Center   (Bosnia and Herzegovina)

Author keywords

Alu repetitive element; Apolipoprotein C II; Chylomicronemia; Homologous recombination; Hypertriglyceridemia; Large deletion

Indexed keywords

APOLIPOPROTEIN A5; APOLIPOPROTEIN C2; CLEFT LIP PALATE ASSOCIATED TRANSMEMBRANE PROTEIN 1; MEMBRANE PROTEIN; PROTEIN GPIHBP1; UNCLASSIFIED DRUG; VERY LOW DENSITY LIPOPROTEIN; APOA5 PROTEIN, HUMAN; APOLIPOPROTEIN A; GPIHBP1 PROTEIN, HUMAN; LIPOPROTEIN LIPASE; LIPOPROTEIN RECEPTOR; LPL PROTEIN, HUMAN;

ALU SEQUENCE; APOA5 GENE; APOC2 GENE; APOLIPOPROTEIN C2 DEFICIENCY; ARTICLE; BASE PAIRING; CASE REPORT; CHYCLOMICRONEMIA; CLEFT LIP PALATE; CLPTM1 GENE; EXON; FEMALE; GENE; GENE DELETION; GENE LOCATION; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC VARIABILITY; GENETICS; GENOTYPE; GPIHBP1 GENE; HOMOLOGOUS RECOMBINATION; HOMOZYGOSITY; HUMAN; IMMUNOBLOTTING; INFANT; ISOELECTRIC FOCUSING; LPL GENE; NUCLEOTIDE SEQUENCE; PATHOGENESIS; POLYMERASE CHAIN REACTION; PROTEIN BLOOD LEVEL; PROTEIN CONFORMATION; PROTEIN DEFICIENCY; SEQUENCE ANALYSIS; VOMITING; BIOLOGY; HOMOZYGOTE; HYPERLIPOPROTEINEMIA TYPE 1;

ALU ELEMENTS; APOLIPOPROTEIN C-II; APOLIPOPROTEINS A; COMPUTATIONAL BIOLOGY; FEMALE; HOMOLOGOUS RECOMBINATION; HOMOZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE I; IMMUNOBLOTTING; INFANT; ISOELECTRIC FOCUSING; LIPOPROTEIN LIPASE; RECEPTORS, LIPOPROTEIN; SEQUENCE DELETION;

EID: 84907174196     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2014.08.022     Document Type: Article

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