Article
Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.
The Journal of clinical investigation - 1 Dec 1991
Gotoda T, Yamada N, Kawamura M, Kozaki K, Mori N, Ishibashi S, Shimano H, Takaku F, Yazaki Y, Furuichi Y, Murase T
Abstract excerpt
The DNA sequences were determined for the lipoprotein lipase (LPL) gene from five unrelated Japanese patients with familial LPL deficiency. The results demonstrated that all five patients are homozygotes for distinct point mutations dispersed throughout the LPL gene. Patient 1 has a G-to-A transition at the first nucleotide of intron 2, which abolishes normal splicing. Patient 2 has a nonsense mutation in exon 3...
Topics
- Adolescent
- Adult
- Aged
- Base Sequence
- Child, Preschool
- Haplotypes
- Humans
- Hypertriglyceridemia
- Infant
- Infant, Newborn
- Lipoprotein Lipase