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Article

Two novel mutations p. L319V and p. L91P in ABO glycosyltransferases lead to Ael and Bel phenotypes.

Blood transfusion = Trasfusione del sangue - 1 Nov 2020

Lei Hang, Wang Zhongying, Wang Yuqing, Xiang Dong, Wang Xuefeng, Cai Xiaohong

Abstract excerpt

BACKGROUND: Mutations of the ABO gene may cause the dysfunction of ABO glycosyltransferase (GT) that can result in weak ABO phenotypes. Here, we identified two novel weak ABO subgroup alleles and explored their mechanisms that caused Ael and Bel phenotypes. MATERIALS AND METHODS: The ABO phenotyping and genotyping were performed by serological studies and direct DNA sequencing of the ABO gene. The role of the...

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Identifiers

PMID: 32281923
DOI: 10.2450/2020.008-20
PMCID: PMC7605879

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Source receipt: pubmed, retrieved 7 Sept 2026.

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