title: Novel human pathological mutations. Gene symbol: SCN5A. Disease: Brugada Syndrome.
authors.affiliation: PV, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy. l.crotti@smatteo.pv.it
authors.forename: Lia
authors.initials: L
authors.lastname: Crotti
authors.forename: M
authors.initials: M
authors.lastname: Pedrazzini
authors.forename: R
authors.initials: R
authors.lastname: Insolia
authors.forename: A
authors.initials: A
authors.lastname: Cuoretti
authors.forename: A
authors.initials: A
authors.lastname: Ghidoni
authors.forename: F
authors.initials: F
authors.lastname: Dagradi
authors.forename: E
authors.initials: E
authors.lastname: Taravelli
authors.forename: E
authors.initials: E
authors.lastname: Chieffo
authors.forename: A
authors.initials: A
authors.lastname: Vicentini
authors.forename: P J
authors.initials: PJ
authors.lastname: Schwartz
mesh_terms: D000328:Adult; D001483:Base Sequence; D053840:Brugada Syndrome / Q000235:genetics*; D003062:Codon; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000235:genetics*; D062554:NAV1.5 Voltage-Gated Sodium Channel; D009711:Nucleotides / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*
chemical_list: D003062:Codon; D018389:Codon, Nonsense; D009124:Muscle Proteins; D062554:NAV1.5 Voltage-Gated Sodium Channel; D009711:Nucleotides; C568320:SCN5A protein, human; D015222:Sodium Channels