SaveHealth provides an in-depth look at cholesterol-fighting atorvastatin, its mechanism of action, clinical significance, ...

Autosomal recessive bestrophinopathy (ARB) is a rare retinal dystrophy caused by homozygous or compound heterozygous null variants in the BEST1 gene. Clinically, ARB presents with variable features ...

The published long-term data suggests that the treatment could maintain its dominant position in the CF market.

At ARVO 2025, in Salt Lake City, Utah, Peng Shang, PhD, talked about her presentation on how the Y402H polymorphism of ...

DelveInsight's "LEQVIO Market Size, Forecast, and Market Insight Report" highlights the details around LEQVIO, which is a PCSK9 Inhibitor. The report provides product descriptions, patent details, and ...

medizin.uni-leipzig.de Objective Homozygous alpha1-antitrypsin (AAT) deficiency increases the risk for developing cirrhosis, whereas the relevance of heterozygous carriage remains unclear. Hence, we ...

Objective: To evaluate the phenotypic features of the patients with E148Q mutation. Subjects: 26 patients homozygous for E148Q, 10 compound heterozygous for E148Q, and eight complex cases were ...

The prevalence in the ethnic Norwegian population of homozygous and heterozygous inheritance is 0.8 % and 12 – 15 % respectively, which makes haemochromatosis one of the most common hereditary ...

Verve Therapeutics, a clinical-stage company developing a new class of genetic medicines for cardiovascular disease, today ...

BACKGROUND: Desmosomal gene variants (DGVs) have been associated with a diverse spectrum of phenotypic manifestations within ...