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

Profiling of factor VIII mutations in Korean haemophilia A.

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

Hwang S H, Kim M J, Lim J A, Kim H C, Kim H S

Abstract excerpt

Haemophilia A (HA) is an X chromosome-linked inherited bleeding disorder caused by heterogeneous mutations of coagulation factor VIII (FVIII). Although more than 900 mutations of FVIII gene are reported in the HAMSTeRS database, the mutation data regarding the FVIII gene in the Korean population is currently insufficient. The aim of this study was to profile the mutations of FVIII in Korean HA, 38 unrelated...

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 Chromosome Inversion
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Factor VIII

Share to Gene Deletion

Share to Hemophilia A

Share to Introns

Share to Sequence Deletion

Source

Identifiers

PMID: 19719548
DOI: 10.1111/j.1365-2516.2009.02086.x

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

Profiling of factor VIII mutations in Korean haemophilia A.PMID 19719548Read ↗

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

Mutation analysis of factor VIII in Korean patients with severe hemophilia A.Semantic proximity Read ↗

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

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

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

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

Genetic analysis of haemophilia A in Taiwan.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 ↗

Spectrum of factor VIII mutations in Arab patients with severe haemophilia A.Semantic proximity Read ↗

A strategy for the molecular diagnosis in hemophilia a in Chinese population.Semantic proximity Read ↗

Molecular characterization of Hemophilia A in Mongolia: identification of a novel F8 frameshift mutationSemantic proximity Read ↗

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