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

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

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Dec 2021

Yuan Li, Chen Wei, Wang Xiaoqin, Zhang Heng

Abstract excerpt

Congenital coagulation factor XI (FXI) deficiency is a rare bleeding disorder with a heterogeneous haemorrhagic phenotype and various hotspot gene mutations associated with race and geography. Studies on FXI deficiency in Shaanxi Province, China, are scarce. In this study, seven patients with severe FXI deficiency and several family members were analysed. The International Society on Thrombosis and...

Read the complete abstract on PubMed

Topics

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

Share to Factor XI
Share to Factor XI Deficiency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to High-Throughput Nucleotide Sequencing

Share to Phenotype

Source

Identifiers

PMID: 34776502
DOI: 10.1097/MBC.0000000000001061

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

Phenotype and genotype analysis of patients with severe factor XI deficiency in Shaanxi Province, China.PMID 34776502Read ↗

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

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

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

How to Capture the Bleeding Phenotype in FXI-Deficient Patients.Semantic proximity Read ↗

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

Bleeding Predictability in Patients with Factor XI Deficiency: The Experience of Reference Centers in Southern ItalySemantic proximity Read ↗

Rare bleeding disorders - bleeding assessment tools, laboratory aspects and phenotype and therapy of FXI deficiency.Semantic proximity Read ↗

Factor XIII deficiency: an update.Semantic proximity Read ↗

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

Clinical and genetic spectrum of factor XII deficiency in the Han population of East China.Semantic proximity Read ↗

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