COMPOUND HETEROZYGOTE FOR LIPOPROTEIN-LIPASE DEFICIENCY - SER-]THR244 AND TRANSITION IN 3' SPLICE SITE OF INTRON-2 (AG-]AA) IN THE LIPOPROTEIN-LIPASE GENE
- 1 October 1990
- journal article
- research article
- Vol. 47 (4) , 721-726
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 .fwdarw. ACC) leads to an amino acid substitution (Ser .fwdarw. Thr244), while the other alters the 3'' splice site of intron 2 (AG .fwdarw. AA). The functional significance of the Thr244 amino acid substitution was established by in vitro expression in cultured mammalian cells.This publication has 28 references indexed in Scilit:
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