A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia

BACKGROUND: Spinocerebellar ataxia (SCA) is a genetically heterogeneous disease. To date, 36 dominantly inherited loci have been reported, and 31 causative genes have been identified. RESULTS: In this study, we analyzed a Japanese family with autosomal dominant SCA using linkage analysis and exome s...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Mol Brain
Hlavní autoři: Morino, Hiroyuki, Matsuda, Yukiko, Muguruma, Keiko, Miyamoto, Ryosuke, Ohsawa, Ryosuke, Ohtake, Toshiyuki, Otobe, Reiko, Watanabe, Masahiko, Maruyama, Hirofumi, Hashimoto, Kouichi, Kawakami, Hideshi
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2015
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4693440/
https://ncbi.nlm.nih.gov/pubmed/26715324
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13041-015-0180-4
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky