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

Association of a transcobalamin II genetic variant with falsely low results for the holotranscobalamin immunoassay.

European journal of clinical investigation - 1 May 2016

Sobczyńska-Malefora Agata, Pangilinan Faith, Plant Gordon T, Velkova Aneliya, Harrington Dominic J, Molloy Anne M, Brody Lawrence C

Abstract excerpt

BACKGROUND: The clinical use of holotranscobalamin (holoTC) testing to evaluate vitamin B12 status has increased in recent years. We present two patients (African Caribbean and Indian heritage), in which the holoTC assay indicated severe B12 deficiency (< 5 pmol/L). Additional clinical tests revealed that these patients had normal levels of total vitamin B12 in blood and unremarkable levels of two other markers...

Read the complete abstract on PubMed

Topics

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

Share to Black People
Share to Blotting, Western

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to False Positive Reactions

Share to Homozygote

Share to Immunoassay

Share to Mass Screening

Share to Transcobalamins

Share to Vitamin B 12 Deficiency

Source

Identifiers

PMID: 26951924
DOI: 10.1111/eci.12617

Genes

TCN2
MAF

Variants

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Association of a transcobalamin II genetic variant with falsely low results for the holotranscobalamin immunoassay.PMID 26951924Read ↗

Transcobalamin polymorphism 67A->G, but not 776C->G, affects serum holotranscobalamin in a cohort of healthy middle-aged men and women.Semantic proximity Read ↗

Association of TCN2 rs1801198 c.776G>C polymorphism with markers of one-carbon metabolism and related diseases: a systematic review and meta-analysis of genetic association studies.Semantic proximity Read ↗

Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature.Semantic proximity Read ↗

The TCN2 776CNG polymorphism correlates with vitamin B(12) cellular delivery in healthy adult populations.Semantic proximity Read ↗

Association of Transcobalamin II (TCN2) and Transcobalamin II-Receptor (TCblR) Genetic Variations With Cobalamin Deficiency Parameters in Elderly Women.Semantic proximity Read ↗

The FUT2 secretor variant p.Trp154Ter influences serum vitamin B12 concentration via holo-haptocorrin, but not holo-transcobalamin, and is associated with haptocorrin glycosylation.Semantic proximity Read ↗

Analysis of the transcobalamin II 776C>G (259P>R) single nucleotide polymorphism by denaturing HPLC in healthy elderly: associations with cobalamin, homocysteine and holo-transcobalamin II.Semantic proximity Read ↗

Should transcobalamin deficiency be treated aggressively?Semantic proximity Read ↗

Transcobalamin II 775G>C polymorphism and indices of vitamin B12 status in healthy older adults.Semantic proximity Read ↗

Transcobalamin 776C->G polymorphism negatively affects vitamin B-12 metabolism.Semantic proximity Read ↗

Genomic mutations associated with mild and severe deficiencies of transcobalamin I (haptocorrin) that cause mildly and severely low serum cobalamin levels.Semantic proximity Read ↗

A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficiency.Semantic proximity Read ↗

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