Article
Simplified detection of a mutation causing familial hypercholesterolaemia throughout Britain: evidence for an origin in a common distant ancestor.
Annals of clinical biochemistry - 1 Mar 1998
Wenham P R, Haddad L, Panarelli M, Ashby J P, Day I N, Giles P D, Humphries S E, Penney M D, Rae P W, Walker S W
Abstract excerpt
Familial hypercholesterolaemia (FH) is an inherited autosomal codominant disorder caused by many different mutations in the low-density lipoprotein receptor (LDLR) gene. The one described most frequently in patients with FH from England, arises from a G-->A transition at the first nucleotide of c...
Topics
- Base Sequence
- Female
- Founder Effect
- Haplotypes
- Heterozygote
- Humans
- Hypercholesterolemia
- Male
- Microsatellite Repeats
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Receptors, LDL
- United Kingdom