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

Using a minigene approach to characterize a novel splice site mutation in human F7 gene causing inherited factor VII deficiency in a Chinese pedigree.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Nov 2009

Yu T, Wang X, Ding Q, Fu Q, Dai J, Lu Y, Xi X, Wang H

Abstract excerpt

Factor VII deficiency which transmitted as an autosomal recessive disorder is a rare haemorrhagic condition. The aim of this study was to identify the molecular genetic defect and determine its functional consequences in a Chinese pedigree with FVII deficiency. The proband was diagnosed as inherited coagulation FVII deficiency by reduced plasma levels of FVII activity (4.4%) and antigen (38.5%). All nine exons...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Exons

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

Share to Factor VII

Share to Factor VII Deficiency

Share to Pedigree

Share to Reverse Transcriptase Polymerase Chain Reaction

Share to RNA, Messenger

Share to RNA Splicing

Source

Identifiers

PMID: 19601987
DOI: 10.1111/j.1365-2516.2009.02064.x

Variants

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

Using a minigene approach to characterize a novel splice site mutation in human F7 gene causing inherited factor VII deficiency in a Chinese pedigree.PMID 19601987Read ↗

Novel aberrant splicings caused by a splice site mutation (IVS1a+5g>a) in F7 gene.Semantic proximity Read ↗

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 ↗

Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiencySemantic proximity Read ↗

Phenotypic and genotypic characterization of two factor VII deficiency patients from southeastern China.Semantic proximity Read ↗

Structural and functional characterization of novel F7 mutations identified in Chinese factor VII-deficient patients.Semantic proximity Read ↗

A novel compound heterozygous variant linked to hematuria in a family with hereditary factor VII deficiency.Semantic proximity Read ↗

Phenotypic and genotypic characterization of four factor VII deficiency patients from central China.Semantic proximity Read ↗

Novel factor VII gene mutations in six families with hereditary coagulation factor VII deficiency.Semantic proximity Read ↗

Novel deep intronic mutation in the coagulation factor XIII a chain gene leading to unexpected RNA splicing in a patient with factor XIII deficiency.Semantic proximity Read ↗

[Analysis of a Chinese pedigree affected with hereditary factor VII deficiency caused by compound heterozygous variants of F7 gene].Semantic proximity Read ↗

Identification of two novel mutations in three children with congenital factor VII deficiency.Semantic proximity Read ↗

A novel missense mutation close to the charge-stabilizing system in a patient with congenital factor VII deficiency.Semantic proximity Read ↗

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