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 languageEnglish
Pages (from-to)294-296
Number of pages3
JournalJournal of the Neurological Sciences
Volume372
DOIs
Publication statusPublished - Jan 15 2017

Keywords

  • AOA2
  • Compound heterozygote
  • Frame shift mutation
  • SETX

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

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

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, vol. 372, pp. 294-296. https://doi.org/10.1016/j.jns.2016.11.074
Motokura E, Yamashita T, Takahashi Y, Tsunoda K, Sato K, Takemoto M et al. An AOA2 patient with a novel compound heterozygous SETX frame shift mutations. Journal of the Neurological Sciences. 2017 Jan 15;372:294-296. https://doi.org/10.1016/j.jns.2016.11.074
Motokura, Emi ; Yamashita, Toru ; Takahashi, Yoshiaki ; Tsunoda, Keiichiro ; Sato, Kota ; Takemoto, Mami ; Hishikawa, Nozomi ; Ohta, Yasuyuki ; Hashiguchi, Akihiro ; Takashima, Hiroshi ; Abe, Koji. / An AOA2 patient with a novel compound heterozygous SETX frame shift mutations. In: Journal of the Neurological Sciences. 2017 ; Vol. 372. pp. 294-296.
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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",
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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

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KW - AOA2

KW - Compound heterozygote

KW - Frame shift mutation

KW - SETX

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DO - 10.1016/j.jns.2016.11.074

M3 - Letter

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EP - 296

JO - Journal of the Neurological Sciences

JF - Journal of the Neurological Sciences

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