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Updated: Jul 5, 2025

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核异常在LMNA p.(Glu2Lys) 变异分离与LMNA相关心皮性进展症综合征

Matheus V M B Wilke1, Myra Wick2,3, Tanya L Schwab4

  • 1Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.

Genes
|January 23, 2024
PubMed
概括

一种新的LMNA基因变异,p.(Glu2Lys),在患有过早衰老和心脏问题的患者身上进行了研究. 核形态学研究发现了异常,导致该变体被归类为可能致病的拉米诺病.

关键词:
LMNA LMNA 这是一个很大的问题.非典型的前性综合征.案例报告案例报告中心的化化.核异常发生在核中.

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