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

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

British journal of haematology - 1 Aug 1997

Aslam S, Yee V C, Narayanan S, Duraisamy G, Standen G R

Abstract excerpt

Molecular analysis has been performed on a Malaysian patient with a severe bleeding disorder due to factor XIII(A) subunit deficiency. Total mRNA was isolated from the patient's leucocytes and four overlapping segments corresponding to the entire coding region of the A subunit cDNA were amplified by RT-PCR. The cDNA segments amplified efficiently and were of expected size. Direct sequencing of the complete...

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
Share to DNA

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

Share to Molecular Sequence Data

Share to Mutation

Share to Polymerase Chain Reaction

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 9266932
DOI: 10.1046/j.1365-2141.1997.2263043.x

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

Structural analysis of a missense mutation (Val414Phe) in the catalytic core domain of the factor XIII(A) subunit.PMID 9266932Read ↗

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 ↗

Molecular basis of inherited factor XIII deficiency: identification of multiple mutations provides insights into protein function.Semantic proximity Read ↗

Molecular characterization of five Italian families with inherited severe factor XIII deficiency.Semantic proximity Read ↗

Seven novel mutations in the factor XIII A-subunit gene causing hereditary factor XIII deficiency in 10 unrelated families.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 ↗

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

Novel Y283C mutation of the A subunit for coagulation factor XIII: molecular modelling predicts its impaired protein folding and dimer formation.Semantic proximity Read ↗

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

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

Physiopathology and regulation of factor XIII.Semantic proximity Read ↗

Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect.Semantic proximity Read ↗

Mutations in coagulation factor XIII A gene in eight unrelated Indians. Five novel mutations identified by a novel PCR-CSGE approach.Semantic proximity Read ↗

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