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Updated: May 15, 2025

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一个副本数变异重叠PLP1的3'UTR导致性

Malak Alghamdi1, Essa Alharbi2, Salman Aljarallah3

  • 1Medical Genetic Division, Pediatric Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

Journal of human genetics
|April 8, 2025
PubMed
概括

在一家患有遗传性性 (SPG) 的家庭中发现了PLP1基因的一个新型遗传变异. 这种副本数变异 (CNV) 扩大了对PLP1相关疾病的理解,并有助于诊断这些具有挑战性的髓状况.

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