Article

Molecular diagnosis of inversions resulting from intron 22 rearrangement of F8 gene in a patients with hemophilia A and their families and genotype-phenotype association analysis

2022-07-22

Abstract excerpt

<h4>Background: </h4> Hemophilia A is an X-linked recessive bleeding disorder characterized by a qualitative and quantitative deficiency of coagulation factor VIII resulting from heterogeneous mutations in the factor VIII gene. About half of severe hemophilia A cases (40-50%) are caused by the F8 intron 22 inversion mutation. The development of inhibitor antibodies against transfused FVIII in patients with hemophi...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 1f07ed38-169b-573f-bde6-fdac448a5d69
DOI: 10.21203/rs.3.rs-1258088/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Molecular diagnosis of inversions resulting from intron 22 rearrangement of F8 gene in a patients with hemophilia A and their families and genotype-phenotype association analysisDOI 10.21203/rs.3.rs-1258088/v1Read

Factor VIII inhibitor development in Egyptian hemophilia patients: does intron 22 inversion mutation play a role?Semantic proximity Read

Genotyping of intron 22-related rearrangements of F8 by inverse-shifting PCR in Egyptian hemophilia A patients.Semantic proximity Read

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

Genotype Hemophilia Screening Program Identified 2 Novel Variants Including a Novel Variant (c.5816-2A > G) Causing a Pathogenic Variant of the Factor 8 Gene.Semantic proximity Read

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

Molecular genotyping of hemophilia A in Saudi Arabia: report of 2 novel mutations.Semantic proximity Read

Severe and moderate hemophilia A: identification of 38 new genetic alterations.Semantic proximity Read

[Application study on inversion diagnosis of F8 gene in hemophilia A].Semantic proximity Read

Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A.Semantic proximity Read

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

Genomic alterations in the F8 gene correlating with severe hemophilia A in Egyptian patients.Semantic proximity Read

Detection of F8 mutations in carriers and patients with severe hemophilia A. Identification of a novel mutation.Semantic proximity Read