在蛋白蛋白基因中的129号编码子中具有甲素同胞性,具有变异性蛋白酶敏感的隐性病变

Frederikke Kragh Clemmensen1, Ausrine Areskeviciute2, Eva Løbner Lund2

  • 1Danish Dementia Research Centre, Department of Neurology, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark frederikke.kragh.clemmensen@regionh.dk.

BMJ case reports
|February 22, 2024
PubMed
概括

变性蛋白酶敏感性隐性病 (VPSPr) 是一种罕见的隐性病. 本报告详细介绍了第八个甲胺同卵性病例,强调了独特的临床和病理特征.

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