Multiple abnormally spliced ABCA1 mRNAs caused by a novel splice site mutation of ABCA1 gene in a patient with Tangier disease

Clinica Chimica Acta

Volumn 411, Issue 7-8, 2010, Pages 524-530

  Bocchi, Letizia ^a   Pisciotta, Livia ^b   Fasano, Tommaso ^a   Candini, Chiara ^a   Puntoni, Maria Rita ^c,d   Sampietro, Tiziana ^c,d   Bertolini, Stefano ^b   Calandra, Sebastiano ^a  

^a UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c INSTITUTE OF CLINICAL PHYSIOLOGY   (Italy)

^d FONDAZIONE TOSCANA GABRIELE MONASTERIO   (Italy)

Author keywords

ABCA1 gene; Intronic mutations; Splicing defects; Tangier disease; Truncated proteins

Indexed keywords

ABC TRANSPORTER A1; APOLIPOPROTEIN A1; APOLIPOPROTEIN A2; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; MESSENGER RNA; TRIACYLGLYCEROL;

ARTICLE; CHOLESTEROL BLOOD LEVEL; CONTROLLED STUDY; EXON; FAMILIAL HYPOALPHALIPOPROTEINEMIA; FIBROBLAST; GENE CONSTRUCT; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; INTRON; LIPOPROTEIN BLOOD LEVEL; PERIPHERAL BLOOD MONONUCLEAR CELL; PRIORITY JOURNAL; RNA SPLICING; SEQUENCE ANALYSIS; TANGIER DISEASE;

ADULT; ATP-BINDING CASSETTE TRANSPORTERS; HUMANS; MALE; MUTATION; RNA SPLICE SITES; RNA SPLICING; RNA, MESSENGER; TANGIER DISEASE;

EID: 77649184745     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2010.01.008     Document Type: Article

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