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一名患有遗传性性的日本患者,患有罕见的KIF5A无意义变异

Shiroh Miura1, Seria Suenaga2, Hana Goto3

  • 1Department of Neurology and Geriatric Medicine, Ehime University Graduate School of Medicine, Toon, Japan. shiroh46@m.ehime-u.ac.jp.

Human genome variation
|June 2, 2025
PubMed
概括

性10 (SPG10),一种遗传性神经疾病,与基因素家族成员5A (KIF5A) 基因突变有关. 一名患有罕见KIF5A变异的日本患者显示KIF5AmRNA表达减少,证实其在SPG中的作用.

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