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

Detection of hemophilia A genetic variants using third-generation long-read sequencing.

Clinica chimica acta; international journal of clinical chemistry - 15 Aug 2024

Ling Xiaoting, Pan Liqiu, Li Linlin, Huang Yunhua, Wang Chenghan, Huang Chaoyu, Long Yan, Zhai Ningneng, Xiao Qingxing, Luo Jiaqi, Tang Rongheng, Meng Li, Huang Yifang

Abstract excerpt

BACKGROUND: Hemophilia A (HA) is an X-linked recessive genetic disorder caused by pathogenic variations of the factor VIII -encoding gene, F8 gene. Due to the large size and diverse types of variations in the F8 gene, causative mutations in F8 cannot be simultaneously detected in one step by traditional molecular analysis, and genetic molecular diagnosis and prenatal screening of HA still face significant...

Read the complete abstract on PubMed

Topics

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

Share to Factor VIII
Share to Genetic Variation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hemophilia A

Share to Mutation

Share to Polymerase Chain Reaction

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 39038592
DOI: 10.1016/j.cca.2024.119884

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

Detection of hemophilia A genetic variants using third-generation long-read sequencing.PMID 39038592Read ↗

Comprehensive Analysis of Hemophilia A (CAHEA): Towards Full Characterization of the F8 Gene Variants by Long-Read Sequencing.Semantic proximity Read ↗

Clinical validation and application of targeted long-range polymerase chain reaction and long-read sequencing-based analysis for hemophilia: experience from a hemophilia treatment center in China.Semantic proximity Read ↗

Identification of deep intronic individual variants in patients with hemophilia A by next‐generation sequencing of the whole factor VIII geneSemantic proximity Read ↗

Mutational Profile in Romanian Patients with Hemophilia 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 ↗

Whole F8 gene sequencing identified pathogenic structural variants in the remaining unsolved patients with severe hemophilia A.Semantic proximity Read ↗

Mutational spectrum and deep intronic variants in the factor VIII gene of haemophilia A patients. Identification by next generation sequencing.Semantic proximity Read ↗

Variant analysis of F8 in 123 patients with hemophilia A: Identification of 18 novel variants.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 ↗

Haplotype-based non-invasive prenatal testing of F8 complex rearrangement via targeted capture sequencing of maternal plasmaSemantic proximity Read ↗

Principles of genetic variations and molecular diseases: applications in hemophilia A.Semantic proximity Read ↗

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

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