ArticleBlood transfusion = Trasfusione del sangue2020
Two novel mutations p. L319V and p. L91P in ABO glycosyltransferases lead to A
Article in Blood transfusion = Trasfusione del sangue, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed, 6 citations in OpenAlex.
- A Rare VariantTransfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2025Article
- Serology and molecular genetic analysis of weakened expression of ABO blood group antigens in Chinese pediatric population.Blood transfusion = Trasfusione del sangueArticle
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
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Abstract
backgroundMutations 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 A MATERIALS AND
methodsThe ABO phenotyping and genotyping were performed by serological studies and direct DNA sequencing of the ABO gene. The role of the novel mutations were evaluated by a three-dimensional model, predicting protein structure changes, and in vitro expression assay. The total glycosyltransferase transfer capacity in supernatant of transfected cells was examined.
resultsWe identified a mutation c. 955C>G (p. L319V) of A allele in an A
conclusionsTwo novel "el"-type ABO subgroup alleles were identified. Both of the two novel mutations can change the local conformation of GTs and reduce protein stability. GTA mutation p. L319V can impair the conversion from H to A antigen and causes the A
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