Molecular insights into the mechanism of nonrecurrent F8 structural variants: Full breakpoint characterization and bioinformatics of DNA elements implicated in the upmost severe phenotype in hemophilia A-Reference-Cited by-同舟云学术

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Molecular insights into the mechanism of nonrecurrent F8 structural variants: Full breakpoint characterization and bioinformatics of DNA elements implicated in the upmost severe phenotype in hemophilia A

Published:2020-01-16 Issue:4 Volume:41 Page:825-836
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Abelleyro Miguel Martín¹^ORCID,Radic Claudia Pamela¹,Marchione Vanina Daniela¹,Waisman Karen¹,Tetzlaff Tomas²,Neme Daniela³,Rossetti Liliana Carmen¹^ORCID,De Brasi Carlos Daniel¹⁴

Affiliation:

1. Instituto de Medicina Experimental (IMEX, CONICET‐Academia Nacional de Medicina) Buenos Aires Argentina

2. Universidad Nacional de General Sarmiento Los Polvorines Argentina

3. Fundación de la Hemofilia Alfredo Pavlovsky, Buenos Aires Argentina

4. Instituto de Investigaciones Hematológicas Mariano R Castex (Academia Nacional de Medicina) Buenos Aires Argentina

Funder

Agencia Nacional de Promoción Científica y Tecnológica

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23977

Reference47 articles.

1. F8 intron 22 inversions and SNP rs73563631 in unrelated families with severe haemophilia A: clinical features and gene testing implications

2. Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs

3. Factor VIII gene inversions in severe hemophilia A: results of an international consortium study

4. Non-B DNA Conformations, Genomic Rearrangements, and Human Disease

5. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A

Cited by 8 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Whole F8 gene sequencing identified pathogenic structural variants in the remaining unsolved patients with severe hemophilia A;Journal of Thrombosis and Haemostasis;2024-06

2. Variant spectrum of F8 and F9 in hemophilia patients from southern China and 26 novel variants;Frontiers in Genetics;2023-12-22

3. Comprehensive Analysis of Hemophilia A (CAHEA): Towards Full Characterization of the F8 Gene Variants by Long-Read Sequencing;Thrombosis and Haemostasis;2023-06-07

4. Current challenges in hemophilia genetics and how they can be overcome;Nature Cardiovascular Research;2022-10-14

5. Comprehensive analysis of F8 large deletions: Characterization of full breakpoint junctions and description of a possible DNA breakage hotspot in intron 6;Journal of Thrombosis and Haemostasis;2022-10

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