An AOA2 patient with a novel compound heterozygous SETX frame shift mutations

Emi Motokura; Toru Yamashita; Yoshiaki Takahashi; Keiichiro Tsunoda; Kota Sato; Mami Takemoto; Nozomi Hishikawa; Yasuyuki Ohta; Akihiro Hashiguchi; Hiroshi Takashima; Koji Abe

doi:10.1016/j.jns.2016.11.074

An AOA2 patient with a novel compound heterozygous SETX frame shift mutations

Emi Motokura, Toru Yamashita, Yoshiaki Takahashi, Keiichiro Tsunoda, Kota Sato, Mami Takemoto, Nozomi Hishikawa, Yasuyuki Ohta, Akihiro Hashiguchi, Hiroshi Takashima, Koji Abe

Research output: Contribution to journal › Letter

Original language	English
Pages (from-to)	294-296
Number of pages	3
Journal	Journal of the Neurological Sciences
Volume	372
DOIs	https://doi.org/10.1016/j.jns.2016.11.074
Publication status	Published - Jan 15 2017

Keywords

AOA2
Compound heterozygote
Frame shift mutation
SETX

ASJC Scopus subject areas

Neurology
Clinical Neurology

Cite this

Motokura, E., Yamashita, T., Takahashi, Y., Tsunoda, K., Sato, K., Takemoto, M., Hishikawa, N., Ohta, Y., Hashiguchi, A., Takashima, H., & Abe, K. (2017). An AOA2 patient with a novel compound heterozygous SETX frame shift mutations. Journal of the Neurological Sciences, 372, 294-296. https://doi.org/10.1016/j.jns.2016.11.074

An AOA2 patient with a novel compound heterozygous SETX frame shift mutations. / Motokura, Emi; Yamashita, Toru; Takahashi, Yoshiaki; Tsunoda, Keiichiro; Sato, Kota; Takemoto, Mami ; Hishikawa, Nozomi ; Ohta, Yasuyuki; Hashiguchi, Akihiro; Takashima, Hiroshi; Abe, Koji.

In: Journal of the Neurological Sciences, Vol. 372, 15.01.2017, p. 294-296.

Research output: Contribution to journal › Letter

@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",

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doi = "10.1016/j.jns.2016.11.074",

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volume = "372",

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journal = "Journal of the Neurological Sciences",

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T1 - An AOA2 patient with a novel compound heterozygous SETX frame shift mutations

AU - Motokura, Emi

AU - Yamashita, Toru

AU - Takahashi, Yoshiaki

AU - Tsunoda, Keiichiro

AU - Sato, Kota

AU - Takemoto, Mami

AU - Hishikawa, Nozomi

AU - Ohta, Yasuyuki

AU - Hashiguchi, Akihiro

AU - Takashima, Hiroshi

AU - Abe, Koji

PY - 2017/1/15

Y1 - 2017/1/15

KW - AOA2

KW - Compound heterozygote

KW - Frame shift mutation

KW - SETX

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U2 - 10.1016/j.jns.2016.11.074

DO - 10.1016/j.jns.2016.11.074

M3 - Letter

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AN - SCOPUS:85002134608

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SP - 294

EP - 296

JO - Journal of the Neurological Sciences

JF - Journal of the Neurological Sciences

SN - 0022-510X

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Access to Document

10.1016/j.jns.2016.11.074