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 Hata A, Emi M, Luc G, Basdevant A, Gambert P, Iverius PH, Lalouel JM Ref: American Journal of Human Genetics, 47:721, 1990 : PubMed
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.
Hata A, Emi M, Luc G, Basdevant A, Gambert P, Iverius PH, Lalouel JM (1990) Compound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and transition in 3' splice site of intron 2 (AG----AA) in the lipoprotein lipase gene American Journal of Human Genetics47: 721-6
Hata A, Emi M, Luc G, Basdevant A, Gambert P, Iverius PH, Lalouel JM (1990) American Journal of Human Genetics47: 721-6