Identification of a novel missense variant (c.567G>A, p. Met189Ile) in ABO*B.01 allele.

  • Published In: Transfusion, 2025, v. 65, n. 4. P. E13 1 of 3

  • Database: Academic Search Ultimate 2 of 3

  • Authored By: Wang, Hua; Wang, Fei; Li, Zhicheng; Liang, Yajun; Xu, Yi; Zuo, Jiangtao; Li, Qing; Guo, Ruiqing; Wu, Yunxiang; Zhang, Demei 3 of 3

Abstract

The article in the journal "Transfusion" discusses the identification of a novel missense variant (c.567G>A, p. Met189Ile) in the ABO*B.01 allele, associated with a weak B phenotype. The study involved a 6-year-old girl from a clinical hospital, whose ABO phenotype was determined using traditional methods and confirmed through genomic sequencing. The variant caused a substitution of methionine by isoleucine at position 189, potentially impacting the activity of glycosyltransferase B. The research was supported by various funding sources and the authors declared no conflicts of interest. [Extracted from the article]

Additional Information

  • Source:Transfusion. 2025/04, Vol. 65, Issue 4, pE13
  • Document Type:Article
  • Subject Area:Health and Medicine
  • Publication Date:2025
  • ISSN:0041-1132
  • DOI:10.1111/trf.18175
  • Accession Number:184767268
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