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 journalLetter

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 journalLetter

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",
year = "2017",
month = "1",
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volume = "372",
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journal = "Journal of the Neurological Sciences",
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TY - JOUR

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

VL - 372

SP - 294

EP - 296

JO - Journal of the Neurological Sciences

JF - Journal of the Neurological Sciences

SN - 0022-510X

ER -