(Q54372045)
Statements
Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosis. (English)
Andrzej Szczudlik
Akiyuki Tomiyasu
Masayuki Nakamura
Mio Ichiba
Shuichi Ueno
Shinji Saiki
Mizuki Morimoto
Jan Kobal
Yasufumi Kageyama
Toshio Inui
Koichi Wakabayashi
Tatsuo Yamada
Yuji Kanemori
Hans H Jung
Haruhiko Tanaka
Satoshi Orimo
Zaid Afawi
Ilan Blatt
Jan Aasly
Hiroshi Ujike
Dusica Babovic-Vuksanovic
Keith A Josephs
Rie Tohge
Guilherme Riccioppo Rodrigues
Nicolas Dupré
Hidetaka Yamada
Fusako Yokochi
Katya Kotschet
Takanobu Takei
Monika Rudzińska
Masaki Fujiwara
Kana Tojo
Akira Sano
19 May 2011
156B
5
620-631