Unexpectedly mild phenotype in an ataxic family with a two-base deletion in the APTX gene

Autor: Hirano, Makito, Matsumura, Ryusuke, Nakamura, Yusaku, Saigoh, Kazumasa, Sakamoto, Hikaru, Ueno, Shuichi, Inoue, Hiroya, Kusunoki, Susumu
Zdroj: In Journal of the Neurological Sciences 15 July 2017 378:75-79
Databáze: ScienceDirect