Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Molecular mechanism underlying an individual with with Ael subtype due to a novel p.Tyr264Cys variant of α-1, 3-N-acetylgalactosaminotransferase gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 May 2026

He Yunlei, Yu Lu, Niu Di, Zhang Jiwei

Abstract excerpt

OBJECTIVE: To explore the molecular mechanism underlying a novel Ael subtype due to a p.Tyr264Cys variant of the α-1, 3-N-acetylgalactosaminotransferase gene. METHODS: The ABO blood type of the individual was confirmed by serological methods. All exons and adjacent intron regions of the ABO gene were amplified with PCR and sequenced. Prime-specific single-strand amplification and sequencing analysis were...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to ABO Blood-Group System
Share to Alleles

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to ABO gene

Share to Mutation, Missense

Share to N-Acetylgalactosaminyltransferases

Source

Identifiers

PMID: 42087739
DOI: 10.3760/cma.j.cn511374-20250515-00296

Genes

ABO

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Molecular mechanism underlying an individual with with Ael subtype due to a novel p.Tyr264Cys variant of α-1, 3-N-acetylgalactosaminotransferase gene].PMID 42087739Read ↗

[Molecular Biological Mechanism of Ael Novel Mutant Subtypes].Semantic proximity Read ↗

[Serological Characteristics and Molecular Biological Mechanism of AEL.02 Subtype].Semantic proximity Read ↗

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

[Ael subgroup due to alpha-1,3-N-acetylgalactoseaminotransferase gene 467C>T and 804insG variants].Semantic proximity Read ↗

[Genetic analysis of an individual with A3 phenotype due to variant of A-glycosyltransferase enzyme gene].Semantic proximity Read ↗

[Molecular study of an individual with Bel subtype due to a novel c.620T>C variant].Semantic proximity Read ↗

A novel allele arising from c.912C>A mutation in the α-1,3-N-acetylgalactosaminyltransferase gene in a Chinese individual.Semantic proximity Read ↗

[Serological feature and molecular mechanism for a case with A307 subgroup].Semantic proximity Read ↗

One novel single nucleotide polymorphism c.424A>G on A1.02 allele in ABO glycosyltransferases leads to Aweak phenotype.Semantic proximity Read ↗

[Genetic analysis of two patients with a rare Ael subtype].Semantic proximity Read ↗

[Study of the molecular characteristics of a Bweak phenotype due to a novel c.398T>C variant of the ABO gene].Semantic proximity Read ↗

Evaluation of amino acid substitution p.Asp183Gly of A-glycosyltransferase enzyme in an individual with the AweakB phenotype.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.