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

Factor XIII ABristol 1: detection of a nonsense mutation (Arg171-->stop codon) in factor XIII A subunit deficiency.

British journal of haematology - 1 Dec 1993

Standen G R, Bowen D J

Abstract excerpt

Molecular analysis has been performed on a patient with coagulation factor XIII A subunit deficiency. A previously published genomic sequence indicates that exon 4 of the factor XIII A subunit gene contains two TaqI restriction sites within which arginine (CGA)-->stop (TGA) nonsense mutations are possible. Oligonucleotide primers were therefore used to amplify exon 4 by the polymerase chain reaction. TaqI...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Codon
Share to Factor XIII

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to CGA gene

Share to Molecular Sequence Data

Share to Mutation

Share to Pedigree

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 7918041
DOI: 10.1111/j.1365-2141.1993.tb03221.x

Genes

CGA

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Factor XIII ABristol 1: detection of a nonsense mutation (Arg171-->stop codon) in factor XIII A subunit deficiency.PMID 7918041Read ↗

Mutations in coagulation factor XIII A gene in three Turkish patients: two novel mutations and a known insertion.Semantic proximity Read ↗

Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levelsSemantic proximity Read ↗

Characterisation of six novel A-subunit mutations leading to congenital factor XIII deficiency and molecular analysis of the first diagnosed patient with this rare bleeding disorder.Semantic proximity Read ↗

Identification of a point mutation in factor XIII A subunit deficiency.Semantic proximity Read ↗

Mutations in the human factor XII gene.Semantic proximity Read ↗

[Analysis of an hereditary coagulation factor XII deficiency in a consanguineous pedigree].Semantic proximity Read ↗

Factor XIIIA Calgary: a candidate missense mutation (Leu667Pro) in the beta barrel 2 domain of the factor XIIIA subunit.Semantic proximity Read ↗

Detection and characterisation of two missense mutations at a cleavage site in the factor VIII light chain.Semantic proximity Read ↗

Structural analysis of a missense mutation (Val414Phe) in the catalytic core domain of the factor XIII(A) subunit.Semantic proximity Read ↗

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 ↗

The molecular genetics of haemophilia A: screening for point mutations in the factor VIII gene using the restriction enzyme TaqI.Semantic proximity Read ↗

Familial coagulation factor V deficiency caused by a novel 4 base pair insertion in the factor V gene: factor V Stanford.Semantic proximity Read ↗

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