@article{138a168108594de9b449bcb45acaaeb2,
title = "An AOA2 patient with a novel compound heterozygous SETX frame shift mutations",
keywords = "AOA2, Compound heterozygote, Frame shift mutation, SETX",
author = "Emi Motokura and Toru Yamashita and Yoshiaki Takahashi and Keiichiro Tsunoda and Kota Sato and Mami Takemoto and Nozomi Hishikawa and Yasuyuki Ohta and Akihiro Hashiguchi and Hiroshi Takashima and Koji Abe",
year = "2017",
month = jan,
day = "15",
doi = "10.1016/j.jns.2016.11.074",
language = "English",
volume = "372",
pages = "294--296",
journal = "Journal of the Neurological Sciences",
issn = "0022-510X",
publisher = "Elsevier",
}