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Article

Missense mutations outside the catalytic domain of the ABO glycosyltransferase can cause weak blood group A and B phenotypes.

Transfusion - 1 Oct 2005

Seltsam Axel, Blasczyk Rainer

Abstract excerpt

BACKGROUND: Only little is known about the impact of amino acid substitutions outside an enzyme's active site on A and B transferase activity. STUDY DESIGN AND METHODS: A panel of blood group A- and B-specific plasmids containing the six known missense mutations of the coding sequence upstream of exon 6 of the ABO gene were constructed. HeLa cells were used to transfect ABO expression plasmids. RESULTS:...

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Source

Identifiers

PMID: 16181218
DOI: 10.1111/j.1537-2995.2005.00558.x

Genes

ABO

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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