A novel A → G mutation in intron I of the hepatic lipase gene leads to alternative splicing resulting in enzyme deficiency

Journal of Lipid Research

Volumn 37, Issue 6, 1996, Pages 1213-1223

  Brand, Korbinian ^a   Dugi, Klaus A ^a   Brunzell, John D ^b   Nevin, David N ^b   Santamarina Fojo, Silvia ^a,c  

^a NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

expression studies; hepatic lipase deficiency; premature atherosclerosis; splicing defect

Indexed keywords

GENE PRODUCT; TRIACYLGLYCEROL LIPASE; ADENINE; GUANINE; PRIMER DNA;

ARTICLE; DNA SEQUENCE; DNA STRUCTURE; EMBRYO; ENZYME DEFICIENCY; GENE AMPLIFICATION; GENE EXPRESSION; GENE ISOLATION; GENE MUTATION; HUMAN; HUMAN CELL; IMMUNOBLOTTING; INTRON; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION; ALTERNATIVE RNA SPLICING; AMINO ACID SEQUENCE; BIOSYNTHESIS; CASE REPORT; CHILD; CHRONIC DISEASE; ENZYMOLOGY; EXON; FEMALE; GENETICS; HEART INFARCTION; HYPERTRIGLYCERIDEMIA; LIVER; MALE; MIDDLE AGED; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PANCREATITIS; POINT MUTATION; REFERENCE VALUE;

ADENINE; ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHRONIC DISEASE; DNA PRIMERS; EXONS; FEMALE; GUANINE; HUMANS; HYPERTRIGLYCERIDEMIA; INTRONS; LIPASE; LIVER; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MYOCARDIAL INFARCTION; PANCREATITIS; POINT MUTATION; POLYMERASE CHAIN REACTION; REFERENCE VALUES;

EID: 0029657764     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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