MAPTK281.

Manuel Schweighauser1, Holly J Garringer2, Therése Klingstedt1,3

  • 1Medical Research Council Laboratory of Molecular Biology, Cambridge, UK.

Acta neuropathologica
|June 23, 2023
PubMed
概括

一个MAPT基因突变 (∆K281) 在两个兄弟姐妹中引起了前性痴呆症. 病理学分析显示了皮克病特征的包容,这表明这种突变导致了这种情况.

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