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Article

A novel cisAB allele with a missense variant (c.971T>C) in the ABO gene of a Brazilian family.

Vox sanguinis - 1 Nov 2024

Miola Marcos Paulo, Prochaska Caroline Luise, Cardoso Guilherme, Ricci Junior Octávio, de Mattos Luiz Carlos

Abstract excerpt

BACKGROUND AND OBJECTIVES: Missense variants in exon 7 of the ABO gene can lead to the formation of cisAB alleles. These alleles encode glycosyltransferases (GTs) capable of synthesizing both A and B antigens. In this study, we report the discovery of a novel cisAB allele and characterize it at molecular, protein and serological levels. MATERIALS AND METHODS: Blood and DNA samples from the proband and seven...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39164023
DOI: 10.1111/vox.13727

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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