The complexity of genotype-phenotype relations associated with loss-of-function sodium channel mutations and the role of in silico studies.
Wilde
Arthur A M
AA
Coronel
Ruben
R
D000200:Action Potentials; D000818:Animals; D053840:Brugada Syndrome / Q000235:genetics / Q000378:metabolism* / Q000503:physiopathology; D016466:CHO Cells; D003198:Computer Simulation; D006224:Cricetinae; D003412:Cricetulus; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008955:Models, Cardiovascular; D009124:Muscle Proteins / Q000235:genetics / Q000378:metabolism*; D016297:Mutagenesis, Site-Directed; D020125:Mutation, Missense; D062554:NAV1.5 Voltage-Gated Sodium Channel; D010496:Pericardium / Q000378:metabolism* / Q000503:physiopathology; D010641:Phenotype; D015203:Reproducibility of Results; D012964:Sodium / Q000378:metabolism*; D015222:Sodium Channels / Q000235:genetics / Q000378:metabolism*; D014162:Transfection
D009124:Muscle Proteins; D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human; D015222:Sodium Channels; D012964:Sodium