Article
Lipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene.
American journal of human genetics - 1 Jul 1990
Emi M, Hata A, Robertson M, Iverius P H, Hegele R, Lalouel J M
Abstract excerpt
In DNA from a male patient of German and Polish ancestry who has lipoprotein lipase deficiency, sequencing of all nine exons and intron-exon boundaries corresponding to the coding region of the lipoprotein lipase gene detected a C----T transition leading to the substitution of a stop signal for the codon that normally determines a glutamine at position 106 of the mature enzyme. Hybridization with allele-specific...
Topics
- Base Sequence
- Cosmids
- DNA
- Exons
- Humans
- Hyperlipoproteinemia Type I
- Hyperlipoproteinemias
- Lipoprotein Lipase
- Male
- Molecular Sequence Data
- Mutation