title: How really rare are rare diseases?: the intriguing case of independent compound mutations in the long QT syndrome.
authors.affiliation: Department of Cardiology, IRCCS Policlinico S. Matteo, Pavia, Italy. PJQT@compuserve.com
authors.forename: Peter J
authors.initials: PJ
authors.lastname: Schwartz
authors.forename: Silvia G
authors.initials: SG
authors.lastname: Priori
authors.forename: Carlo
authors.initials: C
authors.lastname: Napolitano
mesh_terms: D027682:Cation Transport Proteins; D051638:Ether-A-Go-Go Potassium Channels; D020869:Gene Expression Profiling / Q000379:methods*; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods; D051656:KCNQ Potassium Channels; D008133:Long QT Syndrome / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D062554:NAV1.5 Voltage-Gated Sodium Channel; D010375:Pedigree; D010641:Phenotype; D015221:Potassium Channels / Q000235:genetics*; D024642:Potassium Channels, Voltage-Gated; D035583:Rare Diseases / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*
chemical_list: D027682:Cation Transport Proteins; D051638:Ether-A-Go-Go Potassium Channels; D005819:Genetic Markers; C092509:KCNH6 protein, human; D051656:KCNQ Potassium Channels; D062554:NAV1.5 Voltage-Gated Sodium Channel; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated; C568320:SCN5A protein, human; D015222:Sodium Channels