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Article

Novel missense mutation c.797T>C (p.Met266Thr) gives rise to the rare B(A) phenotype in a Chinese family.

Vox sanguinis - 1 Apr 2024

Shao Lin-Nan, Yang Yi-Cheng, Xia Yue-Xin, Li Chun-Xiang, Zhou Shi-Hang, Liang Xiao-Hua

Abstract excerpt

BACKGROUND AND OBJECTIVES: B(A) phenotype is usually formed by nucleotide mutations in the ABO*B.01 allele, with their products exhibiting glycosyltransferases (GTs) A and B overlapping functionality. We herein report a B(A) allele found in a Chinese family. MATERIALS AND METHODS: The entire ABO genes of the probands, including flanking regulatory regions, were sequenced through PacBio third-generation long-read...

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Identifiers

PMID: 38245843
DOI: 10.1111/vox.13591

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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