A novel missense point mutation (S134N) of the Cu/Zn superoxide dismutase gene in a patient with familal motor neuron disease

M. Watanabe, M. Aoki, Koji Abe, M. Shoji, T. Iizuka, Y. Ikeda, S. Hirai, K. Kurokawa, T. Kato, H. Sasaki, Y. Itoyama

Research output: Contribution to journal › Article

29 Citations (Scopus)
Original languageEnglish
Pages (from-to)69-71
Number of pages3
JournalHuman Mutation
Volume9
Issue number1
DOIs
Publication statusPublished - 1997
Externally publishedYes

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Motor Neuron Disease
Missense Mutation
Pedigree
Point Mutation
Superoxide Dismutase
Genes
Superoxide Dismutase-1

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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A novel missense point mutation (S134N) of the Cu/Zn superoxide dismutase gene in a patient with familal motor neuron disease. / Watanabe, M.; Aoki, M.; Abe, Koji; Shoji, M.; Iizuka, T.; Ikeda, Y.; Hirai, S.; Kurokawa, K.; Kato, T.; Sasaki, H.; Itoyama, Y.

In: Human Mutation, Vol. 9, No. 1, 1997, p. 69-71.

Research output: Contribution to journal › Article

Watanabe, M, Aoki, M, Abe, K, Shoji, M, Iizuka, T, Ikeda, Y, Hirai, S, Kurokawa, K, Kato, T, Sasaki, H & Itoyama, Y 1997, 'A novel missense point mutation (S134N) of the Cu/Zn superoxide dismutase gene in a patient with familal motor neuron disease', Human Mutation, vol. 9, no. 1, pp. 69-71. https://doi.org/10.1002/(SICI)1098-1004(1997)9:1<69::AID-HUMU14>3.0.CO;2-N
Watanabe M, Aoki M, Abe K, Shoji M, Iizuka T, Ikeda Y et al. A novel missense point mutation (S134N) of the Cu/Zn superoxide dismutase gene in a patient with familal motor neuron disease. Human Mutation. 1997;9(1):69-71. https://doi.org/10.1002/(SICI)1098-1004(1997)9:1<69::AID-HUMU14>3.0.CO;2-N
Watanabe, M. ; Aoki, M. ; Abe, Koji ; Shoji, M. ; Iizuka, T. ; Ikeda, Y. ; Hirai, S. ; Kurokawa, K. ; Kato, T. ; Sasaki, H. ; Itoyama, Y. / A novel missense point mutation (S134N) of the Cu/Zn superoxide dismutase gene in a patient with familal motor neuron disease. In: Human Mutation. 1997 ; Vol. 9, No. 1. pp. 69-71.
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