Sökning: "LDL receptor gene mutations"
Hittade 3 avhandlingar innehållade orden LDL receptor gene mutations.
1. Mutation Analysis and Hypercholesterolemia: Studies in FH patients and in healthy middle-aged men with high, low, or increasing cholesterol levels during a six-year follow-up (the CRISS study)
Sammanfattning : Our aims were to characterize familial hypercholesterolemia (FH) in a Swedish FH population and to further elucidate the clinical expression and treatment response in relation to genotype. Secondly, we wanted to identify gene variants, which may have impact on cholesterol levels in apparently healthy subjects. LÄS MER
2. Familial hypercholesterolemia in Sweden : genetic and metabolic studies
Sammanfattning : Familial hypercholesterolemia (FH) is inherited as an autosomal codominant disease, usually caused by mutations in the LDL receptor (LDLR) gene. Heterozygous FH is a common disease with a prevalence of about 1/500 in most populations. Clinically, FH is characterized by elevated LDL cholesterol, tendon xanthomas and premature atherosclerosis. LÄS MER
3. Familial hypercholesterolemia in Sweden : genetic and clinical studies
Sammanfattning : Prevention of premature disease and death from cardiovascular complications of atherosclerosis is an important goal for public health, and the early identification of individuals with increased risk is an important goal of modern medicine. Familial hypercholesterolemia (FH) is one of the most common monogenic diseases (1/250 to 1/300) where strong evidence of positive health effects of intervention has been established. LÄS MER