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 point mutations in the F11 gene in Iranian FXI-deficient patients.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Jan 2008

Fard-Esfahani P, Lari G R, Ravanbod S, Mirkhani F, Allahyari M, Rassoulzadegan M, Ala F

Abstract excerpt

Factor XI (FXI) deficiency disorder is caused by defects in the F11 gene. The affected patients may suffer unexpected and major bleeding after trauma. Hence, the aim of this study was to identify the mutations underlying FXI deficiency in Iranian patients. The genetic basis of FXI deficiency was investigated in nine Iranian patients from unrelated families using conformation-sensitive gel electrophoresis (CSGE)...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to Factor XI

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Factor XI Deficiency

Share to Genotype

Share to Mutation, Missense

Share to Point Mutation

Share to RNA Splicing

Source

Identifiers

PMID: 18005151
DOI: 10.1111/j.1365-2516.2007.01593.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Seven novel point mutations in the F11 gene in Iranian FXI-deficient patients.PMID 18005151Read ↗

Genetic analysis in Factor XI deficient patients from central China: identification of one novel and seven recurrent mutations.Semantic proximity Read ↗

Congenital factor XI deficiency, complete genotype and phenotype of two Iranian families.Semantic proximity Read ↗

Molecular genetic analysis of the F11 gene in 14 Turkish patients with factor XI deficiency: identification of novel and recurrent mutations and their inheritance within families.Semantic proximity Read ↗

Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China.Semantic proximity Read ↗

The spectrum of factor XI deficiency in Southeast China: four recurrent variants can explain most of the deficiencies.Semantic proximity Read ↗

Clinical characteristics and genetic variant spectrum of 27 patients with coagulation factor XI deficiency.Semantic proximity Read ↗

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

Gene Variants in Two Families with Inherited Coagulation Factor XI Deficiency and Identification of Mutations.Semantic proximity Read ↗

Factor XI deficiency with a novel homozygous mutation Trp599Arg near the C-terminal region.Semantic proximity Read ↗

Characterization of hereditary factor XI deficiency in Taiwanese patients: identification of three novel and two common mutations.Semantic proximity Read ↗

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

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

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