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

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

Journal of thrombosis and haemostasis : JTH - 1 Oct 2004

Vysokovsky A, Saxena R, Landau M, Zivelin A, Eskaraev R, Rosenberg N, Seligsohn U, Inbal A

Abstract excerpt

BACKGROUND: Hereditary factor (F)XIII deficiency is a rare bleeding disorder mostly due to mutations in FXIII A subunit. OBJECTIVES: We studied the molecular basis of FXIII deficiency in patients from 10 unrelated families originating from Israel, India and Tunisia. METHODS: Exons 2-15 of genomic DNA consisting of coding regions and intron/exon boundaries were amplified and sequenced. Structural analysis of the...

Read the complete abstract on PubMed

Topics

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

Share to Catalysis
Share to Codon, Nonsense

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

Share to Dimerization

Share to Factor XIII

Share to Factor XIII Deficiency

Share to Family Health

Share to Protein Folding

Share to Protein Subunits

Source

Identifiers

PMID: 15456491
DOI: 10.1111/j.1538-7836.2004.00908.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

Seven novel mutations in the factor XIII A-subunit gene causing hereditary factor XIII deficiency in 10 unrelated families.PMID 15456491Read ↗

Congenital factor XIII deficiency in Pakistan: characterization of seven families and identification of four novel mutations.Semantic proximity Read ↗

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

Identification of a novel mutation in the factor XIII A subunit in a patient with inherited factor XIII deficiency.Semantic proximity Read ↗

Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency.Semantic proximity Read ↗

Original tandem duplication in FXIIIA gene with splicing site modification and four amino acids insertion causes factor XIII deficiency.Semantic proximity Read ↗

Identification of eight novel coagulation factor XIII subunit A mutations: implied consequences for structure and function.Semantic proximity Read ↗

Genetic basis of severe factor XIII deficiency in a large cohort of Indian patients: Identification of fourteen novel mutations.Semantic proximity Read ↗

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

Characterization of mutations causing factor VII deficiency in 61 unrelated Israeli patients.Semantic 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 ↗

Factor XIII Deficiency: Laboratory, Molecular, and Clinical AspectsSemantic proximity Read ↗

Comparison of F13A1 gene mutations in 73 patients treated with recombinant FXIII-A2.Semantic proximity Read ↗

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