Article
Non-SCN5A related Brugada syndromes: verification of normal splicing and trafficking of SCN5A without exonic mutations.
Annals of human genetics - 1 Jan 2007
Nakano Yukiko, Tashiro Satoshi, Kinoshita Eiji, Kinoshita-Kikuta Emiko, Takenaka Sou, Miyoshi Miwa, Ogi Hiroshi, Sakoda Eiichiro, Oda Noboru, Suenari Kazuyoshi, Tonouchi Yukiji, Okimoto Tomokazu, Hirai Yukoh, Miura Fumiharu, Yamaoka Kazuko, Koike Tohru, Chayama Kazuaki
Abstract excerpt
Recently, it has been reported that under 20% of Brugada syndrome cases are linked to SCN5A mutations. The purpose of this study was to clarify whether abnormalities other than exonic mutations, such as splicing disorders, decreased mRNA expression levels, or membrane transport abnormalities of S...
Topics
- Adult
- Aged
- Brugada Syndrome
- Exons
- Female
- Humans
- Introns
- Male
- Middle Aged
- Mutation
- Myocytes, Cardiac
- NAV1.5 Voltage-Gated Sodium Channel
- Protein Transport
- RNA Splicing