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

A domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins.

British journal of haematology - 1 Dec 1998

Liu M, Murphy M E, Thompson A R

Abstract excerpt

A variety of mutations are found in haemophilia A families. Those with circulating, dysfunctional protein can provide insights into structural determinants of factor VIII function. A molecular model based upon the crystal structure of the homologous A domains in caeruloplasmin enables predictions of molecular consequences of mutations. To identify haemophilic mutations in coding regions for three A domains of...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to Exons
Share to Hemophilia A

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutation

Share to Mutation, Missense

Share to Pedigree

Share to Polymerase Chain Reaction

Share to Sequence Homology, Amino Acid

Source

Identifiers

PMID: 9886318
DOI: 10.1046/j.1365-2141.1998.01122.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins.PMID 9886318Read ↗

Analysis of 18 novel mutations in the factor VIII gene.Semantic proximity Read ↗

Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and moderately severe hemophilia A.Semantic proximity Read ↗

Detection of 95 novel mutations in coagulation factor VIII gene F8 responsible for hemophilia A: results from a single institution.Semantic proximity Read ↗

A Molecular Model for the Triplicated A Domains of Human Factor VIII Based on the Crystal Structure of Human CeruloplasminSemantic proximity Read ↗

High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation.Semantic proximity Read ↗

An interactive mutation database for human coagulation factor IX provides novel insights into the phenotypes and genetics of hemophilia B.Semantic proximity Read ↗

Molecular pathology of haemophilia A in Turkish patients: identification of 36 independent mutations.Semantic proximity Read ↗

In silico analyses of missense mutations in coagulation factor VIII: identification of severity determinants of haemophilia A.Semantic proximity Read ↗

Spectrum of mutations in CRM-positive and CRM-reduced hemophilia A.Semantic proximity Read ↗

Characterisation of 96 mutations in 128 unrelated severe haemophilia A patients from France. Description of 62 novel mutations.Semantic proximity Read ↗

Molecular genetics in haemophilia A.Semantic proximity Read ↗

Factor VIII (FVIII) gene mutations in 120 patients with hemophilia A: detection of 26 novel mutations and correlation with FVIII inhibitor development.Semantic proximity Read ↗

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