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

[Molecular mechanisms of Arg77Cys missense mutation and Arg174stop nonsense mutation of factor XIII A gene causing severe factor XIII deficiency].

Zhongguo shi yan xue ye xue za zhi - 1 Dec 2011

Zheng Wei-Dong, Liu Yan-Hui, Luo Ying, Yao Zhi-Bin

Abstract excerpt

The present study was aimed to investigate the molecular mechanisms responsible for the pathogenesis of severe factor XIII (FXIII) deficiency. Site-directed mutagenesis was conducted to obtain human FXIIIA expression plasmids bearing the mutations. Wild type FXIIIA recombinant plasmid (pcDNA3.1-FXIIIA-wt) and 2 mutant FXIIIA recombinant plasmids (pcDNA3.1/FXIIIA/77mut, pcDNA3.1/FXIIIA/174mut) were transfected...

Read the complete abstract on PubMed

Topics

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

Share to Chlorocebus aethiops
Share to Codon, Nonsense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to COS Cells

Share to Factor XIII Deficiency

Share to Genotype

Share to Mutagenesis, Site-Directed

Share to Mutation, Missense

Share to Reverse Transcriptase Polymerase Chain Reaction

Source

Identifiers

PMID: 22169303

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

[Molecular mechanisms of Arg77Cys missense mutation and Arg174stop nonsense mutation of factor XIII A gene causing severe factor XIII deficiency].PMID 22169303Read ↗

[Identification of a novel mutation of factor XII gene in a family with coagulation FXII deficiency].Semantic proximity Read ↗

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

[Identification of Arg77Cys and Arg174stop double heterozygous mutation in a Chinese family with inherited FXIII deficiency].Semantic proximity Read ↗

Molecular Basis of Congenital Factor XIII Deficiency in Iran.Semantic proximity Read ↗

[Identification of genetic defects in a Chinese pedigree with factor XIII deficiency: case report and literature review].Semantic proximity Read ↗

Novel Insights into Heterozygous Factor XIII Deficiency.Semantic proximity Read ↗

Coagulation Factor XIIIA Subunit Missense Mutations Affect Structure and Function at the Various Steps of Factor XIII Action.Semantic proximity Read ↗

[Analysis of Emerging Gene Variant and Molecular Mechanism Study of a Patient with Inherited FXI Deficiency].Semantic proximity Read ↗

Molecular modeling predicts structural changes in the A subunit of factor XIII caused by two novel mutations identified in a neonate with severe congenital factor XIII deficiency.Semantic proximity Read ↗

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

Factor XIII deficiency: complete phenotypic characterization of two cases with novel causative mutations.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 ↗

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