Article
A novel deletion/inversion mutation in the low-density lipoprotein receptor gene as a cause of heterozygous familial hypercholesterolemia.
Human mutation - 1 Jan 1996
Koivisto U M, Kontula K
Abstract excerpt
A combined deletion/inversion rearrangement of the LDL receptor gene was discovered in a Finnish patient with heterozygous familial hypercholesterolemia (FH). Sequence analysis of the mutated allele revealed an insertion of 4 nucleotides in exon 11, caused by a combined deletion and insertion eve...
Topics
- Aged
- Alleles
- Amino Acid Sequence
- Base Sequence
- Cells, Cultured
- Chromosome Inversion
- DNA
- Exons
- Female
- Finland
- Genetic Carrier Screening
- Humans
- Hyperlipoproteinemia Type II
- Molecular Sequence Data
- Polymerase Chain Reaction
- Receptors, LDL
- Sequence Deletion