A novel substitution at the translation initiator codon (ATG → ATC) of the lipoprotein lipase gene is mainly responsible for lipoprotein lipase deficiency in a patient with severe hypertriglyceridemia and recurrent pancreatitis

Biochemical and Biophysical Research Communications

Volumn 341, Issue 1, 2006, Pages 82-87

  Yu, Xue Hui ^a   Zhao, Tie Qiang ^b   Wang, Li ^a   Liu, Zhao Ping ^a   Zhang, Cheng Mei ^a   Chen, Rong ^a   Li, Li ^a   Liu, George ^b   Hu, Wei Cheng ^a  

^a SHANDONG UNIVERSITY   (China)

^b PEKING UNIVERSITY   (China)

Author keywords

DNA sequencing; Expression analysis; Gene mutation; Initiation codon; Lipoprotein lipase deficiency; Polymerase chain reaction single strand conformation polymorphism

Indexed keywords

APOLIPOPROTEIN C2; CHINESE DRUG; CLOFIBRATE; GLUTAMIC ACID; HEPARIN; ISOLEUCINE; LIPOPROTEIN LIPASE; LYSINE; METHIONINE; NICOTINIC ACID; THYMOCYTE ANTIBODY; TIMONACIC ARGININE;

ADULT; ARTICLE; CASE REPORT; CATALYSIS; CODON; DISEASE SEVERITY; GENE MUTATION; HUMAN; HYPERLIPOPROTEINEMIA TYPE 1; HYPERTRIGLYCERIDEMIA; LOW FAT DIET; PANCREATITIS; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN EXPRESSION; REAL TIME POLYMERASE CHAIN REACTION; RECURRENT DISEASE; TRANSLATION INITIATION; WESTERN BLOTTING;

ADOLESCENT; CODON, INITIATOR; DNA MUTATIONAL ANALYSIS; HUMANS; HYPERLIPOPROTEINEMIA TYPE I; HYPERLIPOPROTEINEMIA TYPE IV; LIPOPROTEIN LIPASE; MUTATION; PANCREATITIS; PROTEIN BIOSYNTHESIS; RECURRENCE;

EID: 30944446589     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2005.12.165     Document Type: Article

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