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

Identification of seven novel mutations in the factor VIII gene in 18 unrelated Chinese patients with hemophilia A.

Chinese medical journal - 5 Feb 2010

Hua Bao-lai, Yan Zhen-yu, Liang Yan, Yan Mei, Fan Lian-kai, Li Kui-xing, Xiao Bai, Liu Jing-zhong, Zhao Yong-qiang

Abstract excerpt

BACKGROUND: Hemophilia A (HA) is an X-linked inherited bleeding disorder caused by decreased activity of factor VIII (FVIII) due to heterogenous mutations in the FVIII coding gene (F8). The type of mutation plays an important role in the FVIII inhibitor formation. To date, several studies on the spectra of F8 defects have been performed in Western populations, but similar studies in Asian races are scarce. Here,...

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 Child, Preschool

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

Share to Factor VIII

Share to Hemophilia A

Share to Infant

Share to Introns

Share to Point Mutation

Share to Young Adult

Source

Identifiers

PMID: 20193250

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

Identification of seven novel mutations in the factor VIII gene in 18 unrelated Chinese patients with hemophilia A.PMID 20193250Read ↗

Factor VIII gene mutations profile in 148 Chinese hemophilia A subjects.Semantic proximity Read ↗

Spectrum of Molecular Defects in 216 Chinese Families With Hemophilia A: Identification of Noninversion Mutation Hot Spots and 42 Novel Mutations.Semantic proximity Read ↗

The spectrum of the factor 8 (F8) defects in Taiwanese patients with haemophilia A.Semantic proximity Read ↗

The spectrum of FVIII gene variants detected by next generation sequencing in 236 Chinese non-inversion hemophilia A pedigrees.Semantic proximity Read ↗

Profiling of factor VIII mutations in Korean haemophilia A.Semantic proximity Read ↗

Mutation spectrum and inhibitor risk in 100 Korean patients with severe haemophilia A.Semantic proximity Read ↗

Factor VIII mutation spectrum in haemophilia A patients in the population of Henan, China.Semantic proximity Read ↗

Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel MutationsSemantic proximity Read ↗

Identification of 123 previously unreported mutations in the F8 gene of Iranian patients with haemophilia A.Semantic proximity Read ↗

Mutation analysis in the F8 gene in 485 families with haemophilia A and prenatal diagnosis in China.Semantic proximity Read ↗

Mutational spectrum of F8 gene and prothrombotic gene variants in haemophilia A patients from Southern Italy.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.