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

Congenital factor XI deficiency, complete genotype and phenotype of two Iranian families.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Dec 2019

Dorgalaleh Akbar, Gholaminezhad Masoume, Shiravand Yavar, Naderi Majid, Safa Majid

Abstract excerpt

: Congenital factor XI (FXI) deficiency is a mild trauma-related bleeding disorder with estimated worldwide prevalence of one per 1 million. The disorder is less frequent in Iran and a few studies have been performed on Iranian patients. In the current study, we assessed molecular, laboratory and clinical features of two Iranian patients with congenital FXI deficiency and their families. Clinical features and...

Read the complete abstract on PubMed

Topics

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

Share to Blood Coagulation Disorders
Share to Factor XI Deficiency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family

Share to Homozygote

Share to Mutation, Missense

Share to Sequence Analysis

Share to Sequence Deletion

Source

Identifiers

PMID: 31644447
DOI: 10.1097/MBC.0000000000000862

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

Congenital factor XI deficiency, complete genotype and phenotype of two Iranian families.PMID 31644447Read ↗

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

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

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

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

Congenital factor XI deficiency: an update.Semantic proximity Read ↗

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

Phenotype and genotype analysis of patients with severe factor XI deficiency in Shaanxi Province, 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 ↗

Molecular basis and bleeding manifestations of factor XI deficiency in 11 Turkish families.Semantic proximity Read ↗

Factor XIII deficiency in Iran: a comprehensive review of the literature.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 ↗

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

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