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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 genetics - 1 Oct 1990

Hata A, Emi M, Luc G, Basdevant A, Gambert P, Iverius P H, Lalouel J M

Abstract excerpt

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...

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PMID: 2121025
PMCID: PMC1683775

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