Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations.
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- 熊本 俊秀
- 九州看護福祉大学
書誌事項
- タイトル
- Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations.
- 著者
- Mori-Yoshimura M, Monma K, Suzuki N, Aoki M, Kumamoto T, et al.
収録刊行物
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- Journal of the Neurological Sciences
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Journal of the Neurological Sciences - 2012