Article
A LDL receptor gene homozygous mutation: PCR amplification, direct genomic sequencing, associated haplotype, rapid screening for frequency.
Annales de genetique - 1 Jan 1990
Benlian P, Amselem S, Loux N, Pastier D, Giraud G, de Gennes J L, Turpin G, Monnier L, Rieu D, Douste-Blazy P
Abstract excerpt
Many mutations in the LDL receptor (LDLR) gene have now been identified mostly as gross gene rearrangements, however they only represent a weak percentage of all deleterious gene mutations causing Familial Hypercholesterolemia (FH). This discrepancy may be related to the difficulties in characterizing point or small defective mutations. In a three-generation family with Familial Hypercholesterolemia, one specific...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- DNA Mutational Analysis
- Haplotypes
- Humans
- Hyperlipoproteinemia Type II
- Mass Screening
- Molecular Sequence Data
- Pedigree