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

High incidence of FXI deficiency in a Spanish town caused by 11 different mutations and the first duplication of F11: Results from the Yecla study.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Nov 2017

Esteban J, de la Morena-Barrio M E, Salloum-Asfar S, Padilla J, Miñano A, Roldán V, Soria J M, Vidal F, Corral J, Vicente V

Abstract excerpt

INTRODUCTION: Factor XI (FXI) deficiency is a rare disorder with molecular heterogeneity in Caucasians but relatively frequent and molecularly homogeneous in certain populations. AIM: To characterize FXI deficiency in a Spanish town of 60 000 inhabitants. METHODS: A total of 324 764 APTT tests were screened during 20 years. FXI was evaluated by FXI:C and by Western blot. Genetic analysis of F11 was performed by...

Read the complete abstract on PubMed

Topics

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

Share to Cohort Studies
Share to Factor XI

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Factor XI Deficiency

Share to Gene Duplication

Share to Haplotypes

Share to Incidence

Share to Pedigree

Source

Identifiers

PMID: 28960694
DOI: 10.1111/hae.13356

Variants

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

High incidence of FXI deficiency in a Spanish town caused by 11 different mutations and the first duplication of F11: Results from the Yecla study.PMID 28960694Read ↗

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 ↗

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

The spectrum of factor XI deficiency in Italy.Semantic proximity Read ↗

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

Prospective analysis of factor XI deficiencies in the Marseilles area identified four novel mutations among 12 consecutive unrelated families.Semantic proximity Read ↗

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

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

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

Exploring the global landscape of genetic variation in coagulation factor XI deficiency.Semantic proximity Read ↗

Rare bleeding disorders: Real-world data from a Spanish tertiary hospital.Semantic proximity Read ↗

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

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

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