@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",
note = "Funding Information: We appreciate the cooperation of the patient. This work was partly supported by Grant-in-Aid for Scientific Research (B) 25293202 , (C) 15K09316 and Challenging Research 15K15527 and Young Research 15K21181 , and by Grants-in-Aid from the Research Committees (Mizusawa H, Nakashima K, Nishizawa M, Sasaki H, and Aoki M) from the Ministry of Health, Labour and Welfare of Japan. Copyright: Copyright 2017 Elsevier B.V., All rights reserved.",
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 B.V.",
}