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Updated: Jun 12, 2025

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致病性G6PD变体:不同的临床图像源于同一代码子中不同的误解突变

Simonetta Costa1,2, Angelo Minucci3, Amit Kumawat4

  • 1Dipartimento di Scienze della Salute della Donna, del Bambino e di Sanità Pubblica, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

British journal of haematology
|September 19, 2024
PubMed
概括

一种罕见的G6PD缺乏变体,p.(Arg454Pro),导致严重的新生儿血液溶解性贫血. 分子模拟揭示了这种突变如何破坏酶功能,解释了其严重的临床影响.

关键词:
在G6PD中,G6PD是指G6PD.在 G6PD 缺陷中.慢性溶血性疾病 慢性溶血性疾病一个A类变种.分子动力学模拟,分子动力学模拟

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