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Article

FUT1 variants responsible for Bombay or para-Bombay phenotypes in a database.

Scientific reports - 14 Oct 2023

Soejima Mikiko, Koda Yoshiro

Abstract excerpt

Rare individuals with Bombay and para-Bombay phenotypes lack or have weak expression of the ABO(H) antigens on surface of red blood cells due to no or very weak H-type α(1,2)fucosyltransferase activity encoded by FUT1. These phenotypes are clinically important because subjects with these phenotypes can only accept transfusions of autologous blood or blood from subjects with the same phenotypes due to the anti-H...

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Identifiers

PMID: 37838738
DOI: 10.1038/s41598-023-44731-1
PMCID: PMC10576827

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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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FUT1 variants responsible for Bombay or para-Bombay phenotypes in a database.PMID 37838738Read ↗

FUT1 variants responsible for Bombay or para-Bombay phenotypes in a databaseSemantic proximity Read ↗

Identification of two novel variants, c.-35A>T and c.[-35A>T, 725T>G], in the FUT1 gene in a patient exhibiting the para-Bombay phenotype.Semantic proximity Read ↗

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

A novel FUT1*c.889C>T allele associated with the para-Bombay AB phenotype and computational evaluation of the mutation effect.Semantic proximity Read ↗

Identification and structural analysis of a novel FUT1 c.789C>A variant and previously reported para-Bombay alleles using an α2FucT1 structural model.Semantic proximity Read ↗

Two novel FUT1 alleles that cause para-Bombay phenotype in a Chinese individual.Semantic proximity Read ↗

A novel FUT1 variant, c.[35C>T;133_136dupCGCC], underlies a group A para-Bombay phenotype in a Chinese blood donor.Semantic proximity Read ↗

Analysis of the molecular mechanism and pedigree investigation of para-Bombay phenotype caused by combined mutations at position h649 and h768 of FUT1 gene.Semantic proximity Read ↗

Identification of two novel FUT1 mutations in people with Bombay phenotype from Iran.Semantic proximity Read ↗

Molecular basis of Bombay phenotype in Mashhad, Iran: identification of a novel FUT1 deletion.Semantic proximity Read ↗

Homozygous FUT1 Mutations Causing a Para-Bombay Phenotype: a Pedigree Investigation Report.Semantic proximity Read ↗

Identification of six new alleles at the FUT1 and FUT2 loci in ethnically diverse individuals with Bombay and Para-Bombay phenotypes.Semantic proximity Read ↗

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