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Updated: Jan 15, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

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由于涉及一种新型FUT1变异的复合异构性而导致的一种巴巴拜现象型

Melina Luján Brajovich1,2, Cecilia González3, Cintia Principi1,2

  • 1Facultad de Ciencias Bioquímicas y Farmacéuticas, Universidad Nacional de Rosario, Rosario, Argentina.

Vox sanguinis
|October 12, 2025
PubMed
概括

在一个孕妇中发现了一种新的FUT1等位基因变异,该变异基因具有巴拉 - 孟买表型,其中ABH抗原不在红细胞上,但存在于唾液中. 这一发现揭示了这种罕见血型的遗传基础.

关键词:
在 ABO 类型中出现差异.在FUT1等位基因中,帕拉 - 孟买现象型

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