Heterozygous familial hypercholesterolemia (HeFH) is a monogenic disorder that affects about 1 in 500 people, with a higher prevalence in certain subpopulations such as people of Quebecois, Christian ...

Methylenetetrahydrofolate reductase (MTHFR) catalyzes the reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. The C677T in the gene that encodes MTHFR decreases the activity of ...

Familial Hypobetalipoproteinemia (FHBL), caused by variants in the apolipoprotein B (APOB) gene, is a rare autosomal ...

In a 24-week, randomized, placebo-controlled trial, evolocumab, a fully human anti-PSCK9 monoclonal antibody, was studied in pediatric patients who had heterozygous familial hypercholesterolemia and ...

(A): Pedigree of the patient's family, including parents, a sister who died of HI disease, a stillbirth boy at 12 weeks of pregnancy, two healthy brothers and sister carrying the mutation and the ...

For female sheep, size matters. It has long been known that rams with big horns father twice as many lambs as those with small or no horns. Two years back, a team of scientists identified the gene in ...