Article
Identification of the 664 proline to leucine mutation in the low density lipoprotein receptor in four unrelated patients with familial hypercholesterolaemia in the UK.
Clinical genetics - 1 Jul 1991
King-Underwood L, Gudnason V, Humphries S, Seed M, Patel D, Knight B, Soutar A
Abstract excerpt
Mutations in the gene for the low density lipoprotein (LDL) receptor cause Familial Hypercholesterolaemia (FH). One such mutation, a cytosine to thymine change in the codon for amino acid 664, causes proline (CCG) to be replaced by leucine (CTG) at this position, and creates a Pst I site in exon...
Topics
- Adolescent
- Adult
- Base Sequence
- Codon
- Female
- Genetic Carrier Screening
- Haplotypes
- Humans
- Hyperlipoproteinemia Type II
- Leucine
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Proline