Andrea Volta
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View article: Sanger Validation of High-Throughput Sequencing in Genetic Diagnosis: Still the Best Practice?
Sanger Validation of High-Throughput Sequencing in Genetic Diagnosis: Still the Best Practice? Open
Next-generation sequencing (NGS)’s crucial role in supporting genetic diagnosis and personalized medicine leads to the definition of Guidelines for Diagnostic NGS by the European Society of Human Genetics. Factors of different nature produ…
View article: Taking One Step Back in Familial Hypercholesterolemia
Taking One Step Back in Familial Hypercholesterolemia Open
Objective: STAP1 , encoding for STAP1 (signal transducing adaptor family member 1), has been reported as a candidate gene associated with familial hypercholesterolemia. Unlike established familial hypercholesterolemia genes, expression of …
View article: 3101Familial hypercholesterolemia: development of a next generation sequencing approach to the disease
3101Familial hypercholesterolemia: development of a next generation sequencing approach to the disease Open
Lipid lowering therapy in primary cardiovascular prevention 643 mg/dl, 95% CI: 0.41, 4.64, p=0.02, respectively) (Figure 1), and also for TC reduction in case of short half-life statins only (MD: 12.10 mg/dl, 95% CI: 5.25, 18.95; p=0.0005)…