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

Truncated mutant B subunit for factor XIII causes its deficiency due to impaired intracellular transportation.

Blood - 1 May 2001

Koseki S, Souri M, Koga S, Yamakawa M, Shichishima T, Maruyama Y, Yanai F, Ichinose A, Shitishima T

Abstract excerpt

Two Japanese patients were newly diagnosed as having B subunit (XIIIB) deficiency of factor XIII (former type I deficiency). Both patients have a previously described one-base deletion at the boundary between intron A/exon II in the XIIIB gene, heterozygously or homozygously. A founder effect was proposed for this mutation because 3 unrelated patients with XIIIB deficiency also share 2 3'-polymorphisms. In one...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to Base Sequence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Biological Transport

Share to Blood properties and coagulation

Share to Factor XIII

Share to Factor XIII Deficiency

Share to Molecular Sequence Data

Share to Mutation

Source

Identifiers

PMID: 11313256
DOI: 10.1182/blood.v97.9.2667

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Truncated mutant B subunit for factor XIII causes its deficiency due to impaired intracellular transportation.PMID 11313256Read ↗

Type I factor XIII deficiency is caused by a genetic defect of its b subunit: insertion of triplet AAC in exon III leads to premature termination in the second Sushi domain.Semantic proximity Read ↗

Physiopathology and regulation of factor XIII.Semantic proximity Read ↗

Molecular and cellular basis of deficiency of the b subunit for factor XIII secondary to a Cys430-Phe mutation in the seventh Sushi domain.Semantic proximity Read ↗

Impaired protein folding, dimer formation, and heterotetramer assembly cause intra- and extracellular instability of a Y283C mutant of the A subunit for coagulation factor XIII.Semantic proximity Read ↗

Two Novel Mutations (G774A and A1685G) Causing Coagulation Factor XII Deficiency in a Patient with Acute Inferior Myocardial Infarction.Semantic proximity Read ↗

[Molecular mechanisms of two novel mutations of factor XIII gene resulting in hereditary coagulation deficiency].Semantic proximity Read ↗

New insights into the expression and role of platelet factor XIII-A.Semantic proximity Read ↗

Molecular mechanisms of mutations in factor XIII A-subunit deficiency: in vitro expression in COS-cells demonstrates intracellular degradation of the mutant proteins.Semantic proximity Read ↗

A founder effect is proposed for factor XIII B subunit deficiency caused by the insertion of triplet AAC in exon III encoding the second Sushi domain.Semantic proximity Read ↗

[Molecular biological study of glycoprotein IX gene defect in Bernard-Soulier syndrome].Semantic proximity Read ↗

[Molecular mechanisms of Glanzmann thrombasthenia caused by alphaII b P126H mutation: an in vitro experiment].Semantic proximity Read ↗

Defective sorting to secretory vesicles in trans-Golgi network is partly responsible for protein C deficiency: molecular mechanisms of impaired secretion of abnormal protein C R169W, R352W, and G376D.Semantic proximity Read ↗

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