title: Compound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and transition in 3' splice site of intron 2 (AG----AA) in the lipoprotein lipase gene.
abstract: Cloning and sequencing of translated exons and intron-exon boundaries of the lipoprotein lipase gene in a patient of French descent who has the chylomicronemia syndrome revealed that he was a compound heterozygote for two nucleotide substitutions. One (TCC----ACC) leads to an amino acid substitution (Ser----Thr244), while the other alters the 3' splice site of intron 2 (AG----AA). The functional significance of the Thr244 amino acid substitution was established by in vitro expression in cultured mammalian cells.
authors.affiliation: Howard Hughes Medical Institute, University of Utah Health Sciences Center, Salt Lake City 84132.
authors.forename: A
authors.initials: A
authors.lastname: Hata
authors.forename: M
authors.initials: M
authors.lastname: Emi
authors.forename: G
authors.initials: G
authors.lastname: Luc
authors.forename: A
authors.initials: A
authors.lastname: Basdevant
authors.forename: P
authors.initials: P
authors.lastname: Gambert
authors.forename: P H
authors.initials: PH
authors.lastname: Iverius
authors.forename: J M
authors.initials: JM
authors.lastname: Lalouel
mesh_terms: D000595:Amino Acid Sequence; D001053:Apolipoproteins / Q000097:blood; D001483:Base Sequence; D002648:Child; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006579:Heterozygote; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000235:genetics; D007438:Introns; D008055:Lipids / Q000097:blood; D008071:Lipoprotein Lipase / Q000172:deficiency / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010957:Plasmids / Q000235:genetics; D012694:Serine / Q000235:genetics*; D013912:Threonine / Q000235:genetics*
chemical_list: D001053:Apolipoproteins; D008055:Lipids; D013912:Threonine; D012694:Serine; D004247:DNA; D008071:Lipoprotein Lipase