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SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia

✍ Scribed by Ichiro Yabe; Hidenao Sasaki; Tohru Matsuura; Akio Takada; Akemi Wakisaka; Yoshihiro Suzuki; Toshiyuki Fukazawa; Takeshi Hamada; Tatsuro Oda; Akio Ohnishi; Kunio Tashiro


Book ID
119469911
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
264 KB
Volume
156
Category
Article
ISSN
0022-510X

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Screening of SLC25A13 mutations in early
✍ Naoki Yamaguchi; Keiko Kobayashi; Tomotsugu Yasuda; Ikumi Nishi; Mikio Iijima; M πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 539 KB

We have recently identified SLC25A13 on chromosome 7q21.3 as the gene responsible for adultonset type II citrullinemia (CTLN2) and found seven mutations in the SLC25A13 gene of CTLN2 patients. Most recently, the SLC25A13 mutations have been detected in neonatal/infantile patients with a type of neon