Article
Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia.
Arteriosclerosis, thrombosis, and vascular biology - 1 Feb 1999
Bertolini S, Cassanelli S, Garuti R, Ghisellini M, Simone M L, Rolleri M, Masturzo P, Calandra S
Abstract excerpt
The aim of this study was the characterization of mutations of the LDL receptor gene in 39 Italian patients with homozygous familial hypercholesterolemia, who were examined during the period 1994 to 1996. The age of the patients ranged from 1 to 64 years; one third of them were older than 30. Plasma LDL cholesterol level ranged from 10.8 to 25.1 mmol/L. The residual LDL receptor activity, measured in cultured...
Topics
- Adolescent
- Adult
- Amino Acid Sequence
- Base Sequence
- Child
- Child, Preschool
- DNA, Recombinant
- Female
- Haplotypes
- Heterozygote
- Homozygote
- Humans
- Hyperlipoproteinemia Type II
- Infant
- Italy