Article
Characterization of two new point mutations in the low density lipoprotein receptor genes of an English patient with homozygous familial hypercholesterolemia.
Journal of lipid research - 1 May 1992
Webb J C, Sun X M, Patel D D, McCarthy S N, Knight B L, Soutar A K
Abstract excerpt
Two new point mutations have been detected in the low density lipoprotein (LDL) receptor gene of a patient with a clinical diagnosis of homozygous familial hypercholesterolemia (FH). The patient is a compound heterozygote, in whom the mutant allele inherited from his English father has a single b...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- Cells, Cultured
- Child, Preschool
- England
- Exons
- Glutamates
- Glutamic Acid
- Homozygote
- Humans
- Hyperlipoproteinemia Type II
- Lysine
- Male
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Mutation
- Pedigree