The concept that the phenotype observed in patients affected by inherited arrhythmogenic diseases is determined exclusively by the primary genetic defect, transmitted as a mendelian trait, has been questioned by a substantial body of clinical literature showing that incomplete penetrance and variable expressivity are common features of these diseases. Investigations demonstrating genotype–phenotype correlations have provided major advances in the understanding of arrhythmogenic disease. Once more, translational science that places clinicians and basic scientists side by side has created a win-win situation in which both basic and clinical science benefit from the interaction.

Molecular underpinning of ''good luck''

PRIORI, SILVIA GIULIANA;Napolitano C.
2006-01-01

Abstract

The concept that the phenotype observed in patients affected by inherited arrhythmogenic diseases is determined exclusively by the primary genetic defect, transmitted as a mendelian trait, has been questioned by a substantial body of clinical literature showing that incomplete penetrance and variable expressivity are common features of these diseases. Investigations demonstrating genotype–phenotype correlations have provided major advances in the understanding of arrhythmogenic disease. Once more, translational science that places clinicians and basic scientists side by side has created a win-win situation in which both basic and clinical science benefit from the interaction.
2006
Cardiovascular & Hematology Research covers all levels of investigation into the normal and pathogenic functions of the heart, vasculature, and soluble blood components. Cell biology of vascular tissue and formed elements of blood, biochemical regulation of thrombosis, therapeutic strategies for treatment of cardiac and vascular diseases are also considered. Resources on hematologic oncology are excluded and are placed in the Oncogenesis & Cancer Research category.
Sì, ma tipo non specificato
Inglese
Internazionale
STAMPA
114
5
360
362
Tematica Ex SIR: RAPPORTI GENOTIPO-FENOTIPO (Classif. Ex SIR:Articoli su riviste ISI )
LQTS; Brugada Syndrom; Genes
1
info:eu-repo/semantics/article
262
Priori, SILVIA GIULIANA; Napolitano, C.
1 Contributo su Rivista::1.1 Articolo in rivista
none
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11571/30591
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