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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.

Blood transfusion = Trasfusione del sangue - 1 Sept 2024

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

Abstract excerpt

BACKGROUND: As is well documented, the para-Bombay phenotype is typically characterized by the reduction or absence of ABH antigens on red blood cells but the presence of corresponding antigens in saliva. Herein, the underlying molecular mechanism of an individual with para-Bombay AB phenotype combined with two novel variants of the FUT1 gene was investigated. MATERIALS AND METHODS: ABH antigens and antibodies...

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Topics

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 37458720
DOI: 10.2450/BloodTransfus.505
PMCID: PMC11390608

Genes

FUT1
ABO
FUT2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Genetic and mechanistic evaluation of an individual with para-Bombay phenotype associated with a compound heterozygote comprising two novel FUT1 variants.PMID 37458720Read ↗

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