A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)

Shimazaki, H.; Takiyama, Y.; Ishiura, H.; Sakai, C.; Matsushima, Y.; Hatakeyama, H.; Honda, J.; Sakoe, K.; Naoi, T.; Namekawa, M.; Fukuda, Y.; Takahashi, Y.; Goto, J.; Tsuji, S.; Goto, Y.-i.; Nakano, I.

期刊名称Journal of Medical Genetics
作者Shimazaki, H.; Takiyama, Y.; Ishiura, H.; Sakai, C.; Matsushima, Y.; Hatakeyama, H.; Honda, J.; Sakoe, K.; Naoi, T.; Namekawa, M.; Fukuda, Y.; Takahashi, Y.; Goto, J.; Tsuji, S.; Goto, Y.-i.; Nakano, I.
卷第49卷
期第12期
印刷ISSN0022-2593
电子ISSN1468-6244
文件大小241.99KB
发表时间2012-12-01
DOI10.1136/jmedgenet-2012-101212
页码777-784

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A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)