Article
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 substitut...
Topics
- Amino Acid Sequence
- Apolipoproteins
- Base Sequence
- Child
- Cloning, Molecular
- DNA
- DNA Mutational Analysis
- Female
- Heterozygote
- Humans
- Hyperlipoproteinemia Type I
- Introns
- Lipids
- Lipoprotein Lipase
- Male