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

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