Am J Hum Genet. 1990 Oct;47(4):721-6.

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.

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Howard Hughes Medical Institute, University of Utah Health Sciences Center, Salt Lake City 84132.

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.

PMID:: 2121025; [PubMed - indexed for MEDLINE]
PMCID:: PMC1683775

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Cited by 6 PubMed Central articles

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Compound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and trans...
Compound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and transition in 3' splice site of intron 2 (AG----AA) in the lipoprotein lipase gene.
Am J Hum Genet. 1990 Oct ;47(4):721-6.

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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.

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