A novel 5' splice site mutation of SCN5A associated with Brugada syndrome resulting in multiple cryptic transcripts.
Toshio
T
Shimada
Kimie
K
Ohkubo
Keisuke
K
Abe
Ichiro
I
Watanabe
Naomasa
N
Makita
D000328:Adult; D000818:Animals; D053840:Brugada Syndrome / Q000235:genetics*; D019556:COS Cells; D002522:Chlorocebus aethiops; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D062554:NAV1.5 Voltage-Gated Sodium Channel / Q000235:genetics*; D010375:Pedigree; D022821:RNA Splice Sites / Q000235:genetics*
D062554:NAV1.5 Voltage-Gated Sodium Channel; D022821:RNA Splice Sites; C568320:SCN5A protein, human