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

Factor VII deficiency due to compound heterozygosity for Leu-48Pro mutation and a novel Pro260Leu mutation.

Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis - 1 Jan 2000

Kogiso N, Taki M, Takamiya O

Abstract excerpt

We investigated the mechanisms responsible for factor VII (FVII) deficiency in a compound heterozygous Japanese patient with mutations both in the signal peptide and in the catalytic domain. FVII activity (FVII:C) and antigen (FVII:Ag) levels of the patient were 14.5% and 12.5% of those of the normal controls, respectively. In all, 2 heterozygous point mutations were identified in the patient: one was the...

Read the complete abstract on PubMed

Topics

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

Share to Cell Line
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cricetinae

Share to Factor VII Deficiency

Share to Heterozygote

Share to Immunohistochemistry

Share to Leucine

Share to Transfection

Source

Identifiers

PMID: 21441234
DOI: 10.1177/1076029610397182

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

Factor VII deficiency due to compound heterozygosity for Leu-48Pro mutation and a novel Pro260Leu mutation.PMID 21441234Read ↗

Hereditary coagulation factor VII deficiency caused by novel compound heterozygous mutations c.572-1G>A and c.1037A>C in a Chinese pedigree.Semantic proximity Read ↗

Factor VII Morioka (FVII L-26P): a homozygous missense mutation in the signal sequence identified in a patient with factor VII deficiency.Semantic proximity Read ↗

Factor VII Deficiency Due to Compound Heterozygosity for the p.Leu13Pro Mutation and a Novel Mutation in the HNF4 Binding Region (-58G>C) in the F7 Promoter.Semantic proximity Read ↗

Factor XII Shizuoka, a novel mutation (Ala392Thr) identified and characterized in a patient with congenital coagulation factor XII deficiency.Semantic proximity Read ↗

[Molecular mechanisms of Arg77Cys missense mutation and Arg174stop nonsense mutation of factor XIII A gene causing severe factor XIII deficiency].Semantic proximity Read ↗

Novel mutations in congenital factor XII deficiency.Semantic proximity Read ↗

A Thr359Met mutation in factor VII of a patient with a hereditary deficiency causes defective secretion of the molecule.Semantic proximity Read ↗

Factor XII Osaka: abnormal factor XII with partially defective prekallikrein cleavage activity.Semantic proximity Read ↗

Factor XII Ofunato: Lys346Asn mutation associated with blood coagulation factor XII deficiency causes impaired secretion through a proteasome-mediated degradation.Semantic proximity Read ↗

[Haplotype Analysis of Coagulation Factor VII Gene in a Patient with Congenital Coagulation Factor VII Deficiency with Heterozygous p.Arg337Cys Mutation and o.Aro413Gin Polymorphism..]Semantic proximity Read ↗

Japanese family with congenital factor VII deficiency.Semantic proximity Read ↗

Molecular and cellular basis of deficiency of the b subunit for factor XIII secondary to a Cys430-Phe mutation in the seventh Sushi domain.Semantic proximity Read ↗

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