Characterization of a novel AEL allele harboring a c.28 + 5G>A mutation on the ABO*A2.01 background: a study utilizing PacBio third-generation sequencing and functional assays

Characterization of a novel AEL allele harboring a c.28 + 5G>A mutation on the ABO*A2.01 background: a study utilizing PacBio third-generation sequencing and functional assays

BackgroundMutations in the ABO gene, including base insertions, deletions, substitutions, and splicing errors, can result in blood group subgroups associated with the quantity and quality of blood group antigens. Here, we employed third-generation PacBio sequencing to uncover a novel AEL allele aris...

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Bibliographic Details
Main Authors: Lin-Nan Shao, Wen-Qian Song, Lu Zhou, Ling-Zi Pan, Ying Duan, Nan Xiao, Shi-Hang Zhou, Xiao-Hua Liang
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-12-01
Series:Frontiers in Immunology
Subjects:
novel AEL allele
intron
splice site
minigene
PacBio
third-generation sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2024.1396426/full
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