Article
A newly identified null allelic mutation in the human lipoprotein lipase (LPL) gene of a compound heterozygote with familial LPL deficiency.
Biochimica et biophysica acta - 14 Apr 1992
Gotoda T, Yamada N, Murase T, Miyake S, Murakami R, Kawamura M, Kozaki K, Mori N, Shimano H, Shimada M
Abstract excerpt
In a Japanese patient with familial LPL deficiency, a new null allelic mutation, one base pair deletion at nucleotide position 916 was identified in exon 5 of one allele. In exon 3 of the other allele, we found the same nonsense mutation as we described previously in other Japanese kindreds. For...
Topics
- Alleles
- Amino Acid Sequence
- Asian People
- Base Sequence
- Female
- Heterozygote
- Humans
- Hyperlipoproteinemia Type I
- Lipoprotein Lipase
- Male
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction