作者: S.G. Priori , C. Napolitano , M. Cerrone
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摘要: The integration between molecular biology and clinical practice requires the achievement of fundamental steps to link basic science diagnosis management patients. In last decade, study genetic bases human diseases has achieved several milestones, it is now possible apply knowledge that stems fromthe identification substrate practice. first step along process linking medicine inherited diseases. After this important goal achieved, becomes extend research understand functional impairments mutant protein(s) them manifestations (genotype-phenotype correlation). genetically heterogeneous diseases, may be identify locus-specific risk stratification algorithms. Finally, most ambitious in disease discover a novel pharmacological therapy targeted at correcting inborn defect (locus-specific therapy) or even “cure” DNA abnormality by replacing defective gene with therapy. At present, curative been successful only for very few field arrhythmogenic genes have discovered, genetics emerging as source information contributing not better but also characterization proteins opened new perspectives about possibility performing genespecific mutation-specific chapter, we will briefly summarize conditions point out how derived from influenced “optimal use traditional therapies” paved way development gene-specific