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

Heterozygous factor XI deficiency associated with three novel mutations.

British journal of haematology - 1 Dec 1999

Mitchell M, Cutler J, Thompson S, Moore G, Jenkins Ap Rees E, Smith M, Savidge G, Alhaq A

Abstract excerpt

To determine the utility of single-stranded conformation polymorphism (SSCP) analysis for screening mutations in the factor XI (fXI) gene, we investigated three patients with heterozygous factor XI deficiency. DNA sequence analysis confirmed three novel mutations; a CGC --> TGC (Arg308Cys) mutation in exon 9, a GCT-->GTT (Ala412Val) mutation in exon 11 and an AGC --> AGA (Ser576Arg) mutation in exon 15. We...

Read the complete abstract on PubMed

Topics

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

Share to Factor XI Deficiency
Share to AGA gene
Share to Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Polymerase Chain Reaction

Share to Polymorphism, Single-Stranded Conformational

Source

Identifiers

PMID: 10606881
DOI: 10.1046/j.1365-2141.1999.01769.x

Genes

AGA

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

Heterozygous factor XI deficiency associated with three novel mutations.PMID 10606881Read ↗

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

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

Coagulation factor XI: a database of mutations and polymorphisms associated with factor XI deficiency.Semantic proximity Read ↗

Severe factor XI deficiency caused by compound heterozygosity for the type III mutation and a novel insertion in exon 9 (codons 324/325 +G).Semantic proximity Read ↗

Genetic analysis of compound heterozygous pathogenic variants of the F11 gene in two Chinese patients with hereditary factor XI deficiency.Semantic proximity Read ↗

Phenotype and genotype report on homozygous and heterozygous patients with congenital factor X deficiency.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 ↗

Four novel FXI gene mutations in three factor XI- deficient patients.Semantic proximity Read ↗

Three Factor 11 Mutations Associated with Factor XI Deficiency in a Turkish Family.Semantic proximity Read ↗

Characterisation of five factor XI mutations.Semantic proximity Read ↗

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

Severe factor XI deficiency in an Arab family associated with a novel mutation in exon 11.Semantic proximity Read ↗

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