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

Transcobalamin deficiency due to activation of an intra exonic cryptic splice site.

British journal of haematology - 1 Dec 2003

Namour Fares, Helfer Anne-Catherine, Quadros Edward V, Alberto Jean-Marc, Bibi Ha M, Orning Lars, Rosenblatt David S, Jean-Louis Guéant

Abstract excerpt

Transcobalamin (TC), a vitamin B12 (cobalamin, Cbl) binding protein in plasma, promotes the cellular uptake of the vitamin by receptor-mediated endocytosis. Inherited TC deficiency is an autosomal recessive disorder characterized by megaloblastic anaemia caused by cellular vitamin B12 depletion. It may be accompanied by neurological complications, including a delay in psychomotor and mental development. This...

Read the complete abstract on PubMed

Topics

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

Share to Anemia, Megaloblastic
Share to COS Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electrophoresis, Polyacrylamide Gel

Share to Parents

Share to RNA Splice Sites

Share to Siblings

Share to Transcobalamins

Share to Vitamin B 12

Source

Identifiers

PMID: 14632784
DOI: 10.1046/j.1365-2141.2003.04685.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Transcobalamin deficiency due to activation of an intra exonic cryptic splice site.PMID 14632784Read ↗

The cloning and characterization of the human transcobalamin II geneSemantic proximity Read ↗

Identification of two mutant alleles of transcobalamin II in an affected family.Semantic proximity Read ↗

Should transcobalamin deficiency be treated aggressively?Semantic proximity Read ↗

Transcobalamin deficiency caused by compound heterozygosity for two novel mutations in the TCN2 gene: a study of two affected siblings, their brother, and their parents.Semantic proximity Read ↗

Identification of transcobalamin deficiency with two novel mutations in the TCN2 gene in a Chinese girl with abnormal immunity: a case report.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 ↗

Long-term Outcome of 4 Patients With Transcobalamin Deficiency Caused by 2 Novel TCN2 Mutations.Semantic proximity Read ↗

A new case of congenital atransferrinemia with a novel splice site mutation: c.293-63del.Semantic proximity Read ↗

Update on transcobalamin deficiency: clinical presentation, treatment and outcome.Semantic proximity Read ↗

A novel mutation of the transcobalamin II gene in an infant presenting with hemophagocytic lymphohistiocytosis.Semantic proximity Read ↗

Transcobalamin II Deficiency in Four Cases with Novel Mutations.Semantic proximity Read ↗

Transcobalamin (TC) deficiency--potential cause of bone marrow failure in childhood.Semantic proximity Read ↗

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