Genetic and mechanistic evaluation of an individual with para-Bombay phenotype associated with a compound heterozygote comprising two novel FUT1 variants.

Two novel FUT1 variants were identified in a Chinese individual with para-Bombay AB phenotype, which can expand our understanding of the molecular mechanism underlying the para-Bombay phenotype and contribute to improving the safety of blood transfusion.

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Publication Details

Journal
PubMed
Published
2024-09-01
DOI
https://doi.org/10.2450/bloodtransfus.505
Primary Topic
Glycosylation and Glycoproteins Research
Type
article
Field-Weighted Citation Impact
0.00
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article

Genetic and mechanistic evaluation of an individual with para-Bombay phenotype associated with a compound heterozygote comprising two novel FUT1 variants.

Xiaozhen Hong, Xianguo Xu, Yanling Ying, Kairong Ma et al.
PubMed
Glycosylation and Glycoproteins Research
article

Genetic and mechanistic evaluation of an individual with para-Bombay phenotype associated with a compound heterozygote comprising two novel FUT1 variants.

Xiaozhen Hong, Xianguo Xu, Yanling Ying, Kairong Ma, Jingjing Zhang, Faming Zhu
article en

Abstract

Two novel FUT1 variants were identified in a Chinese individual with para-Bombay AB phenotype, which can expand our understanding of the molecular mechanism underlying the para-Bombay phenotype and contribute to improving the safety of blood transfusion.

PubMedVol. 22(5)
Blood Center of Zhejiang Province (CN)
Openalex Percentile: Top 100%
Glycosylation and Glycoproteins Research
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