Homozygosity for two point mutations in the lipoprotein lipase (LPL) gene in a patient with familial LPL deficiency: LPL(Asp9 → Asn, Tyr262 → His)

Journal of Lipid Research

Volumn 37, Issue 3, 1996, Pages 651-661

  Rouis, Mustapha ^a   Lohse, Peter ^a,c   Dugi, Klaus A ^a   Lohse, Pia ^a,c   Beg, Obaid U ^a   Ronan, Rosemary ^a   Talley, Glenda D ^a   Brunzell, John D ^b   Santamarina Fojo, Silvia ^a  

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

^b UNIVERSITY OF WASHINGTON   (United States)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

Glycosaminoglycans; Heparin binding; Hypertriglyceridemia; Lipoprotein lipase deficiency; LPL monomer; Pancreatitis

Indexed keywords

GLYCOSAMINOGLYCAN; LIPOPROTEIN LIPASE;

ADULT; AFFINITY CHROMATOGRAPHY; AMINO ACID SUBSTITUTION; CASE REPORT; CATABOLISM; DNA SEQUENCE; ENZYME DEFICIENCY; FAMILIAL DISEASE; GENE EXPRESSION; GENE MUTATION; HOMOZYGOSITY; HUMAN; HYPERTRIGLYCERIDEMIA; MALE; PANCREATITIS; POINT MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; REVIEW;

AMINO ACID SEQUENCE; CHOLESTEROL; CHROMATOGRAPHY, AFFINITY; CLONING, MOLECULAR; HUMANS; HYPERLIPOPROTEINEMIA TYPE I; LIPIDS; LIPOPROTEIN LIPASE; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PROTEIN CONFORMATION; RECOMBINANT PROTEINS; SEQUENCE ANALYSIS; TRANSFECTION; TRIGLYCERIDES;

EID: 0030006214     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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