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Updated: Jul 24, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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导致G6PD缺乏症的遗传变异:临床和生化数据支持新的世卫组织分类

Caterina Nannelli1,2, Andrea Bosman3, Jane Cunningham3

  • 1University of Florence, Florence, Italy.

British journal of haematology
|July 7, 2023
PubMed
概括

葡萄糖-6-酸盐脱酶 (G6PD) 缺乏是常见的,但严重的慢性贫血是罕见的. 大多数G6PD缺乏的男性的残留酶活性低于30%,这解释了为什么严重的贫血不常见.

关键词:
在 G6PD 缺陷中.世界卫生组织的分类.葡萄糖-6-酸盐脱酶.血液溶解性贫血是什么意思

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