Novel human pathological mutations. Gene symbol: SCN5A. Disease: Brugada Syndrome.
Crotti
Lia
L
PV, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy. l.crotti@smatteo.pv.it
Pedrazzini
M
M
Insolia
R
R
Cuoretti
A
A
Ghidoni
A
A
Dagradi
F
F
Taravelli
E
E
Chieffo
E
E
Vicentini
A
A
Schwartz
P J
PJ
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*
D003062:Codon; D018389:Codon, Nonsense; D009124:Muscle Proteins; D062554:NAV1.5 Voltage-Gated Sodium Channel; D009711:Nucleotides; C568320:SCN5A protein, human; D015222:Sodium Channels