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Updated: Feb 3, 2026

Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells
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Heterozygous FUT1 Mutations Causing a Para-Bombay Phenotype

Tze-Kiong Er, Tao-Chieh Yang, Yi-Hong Liu

    Clinical Laboratory
    |October 19, 2018
    PubMed
    Summary

    This study identifies compound heterozygous mutations in the FUT1 gene causing the rare para-Bombay A phenotype. These findings highlight common FUT1 mutations in the Taiwanese population.

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