An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease)

Journal of Clinical Investigation

Volumn 98, Issue 2, 1996, Pages 358-364

  Kuivenhoven, Jan Albert ^c,d   Weibusch, Heiko ^a   Pritchard, P Haydn ^b   Funke, Harald ^a   Benne, Rob ^c   Assmann, Gerd ^a   Kastelein, John J P ^c  

^a UNIVERSITY OF MÜNSTER   (Germany)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

genetic disease; HDL deficiency; intron retention; lecithin:cholesterol acyltransferase; splicing

Indexed keywords

APOLIPOPROTEIN A1; APOLIPOPROTEIN B; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; MESSENGER RNA; PHOSPHATIDYLCHOLINE STEROL ACYLTRANSFERASE; TRIACYLGLYCEROL;

ADULT; ARTICLE; CASE REPORT; CHOLESTEROL ESTERIFICATION; ENZYME ACTIVITY; EYE DISEASE; FEMALE; GENE MUTATION; GENETIC DISORDER; HUMAN; HUMAN CELL; INTRON; MISSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; RNA PROCESSING; RNA SEQUENCE; RNA SPLICING;

EID: 0030017367     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI118800     Document Type: Article

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