Splicing analysis of 26 F8 nucleotide variations using a minigene assay-Reference-Cited by-同舟云学术

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Splicing analysis of 26 F8 nucleotide variations using a minigene assay

Published:2019-01-28 Issue:2 Volume:25 Page:306-315
ISSN:1351-8216
Container-title:Haemophilia
language:en
Short-container-title:Haemophilia

Author:

Jourdy Yohann¹²^ORCID,Fretigny Mathilde¹,Nougier Christophe¹,Négrier Claude¹²,Bozon Dominique³,Vinciguerra Christine¹²

Affiliation:

1. Service d’Hématologie Biologique, Centre de Biologie et Pathologie Est Hospices Civils de Lyon Lyon France

2. EA 4609 Hémostase et Cancer, Université Claude Bernard Lyon 1 University Lyon Lyon France

3. Laboratoire de Cardiogénétique Moléculaire, Centre de Biologie et Pathologie Est Hospices Civils de Lyon Lyon France

Publisher

Wiley

Subject

Genetics(clinical),Hematology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/hae.13687

Reference37 articles.

1. Definitions in Hemophilia

2. Structure of human factor VIII

3. A day in the life of the spliceosome

4. Analysis of F8 mRNA in haemophilia A patients with silent mutations or presumptive splice site mutations

5. Human liver sinusoidal endothelial cells but not hepatocytes contain factor VIII

Cited by 15 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. An intronic RNA element modulates Factor VIII exon-16 splicing;Nucleic Acids Research;2023-11-14

2. Molecular genetic diagnosis in the group of hemophilia A patients in Belarus: 12 new allelic variants in the <i>F8</i> gene;Pediatric Hematology/Oncology and Immunopathology;2023-09-30

3. Whole F8 gene sequencing combined with splicing functional analyses led to a substantial increase of the molecular diagnosis yield for non‐severe haemophilia A;Haemophilia;2023-07-06

4. Whole F9 gene sequencing identified deep intronic variations in genetically unresolved hemophilia B patients;Journal of Thrombosis and Haemostasis;2023-04

5. Rescue of blood coagulation Factor VIII exon-16 mis-splicing by antisense oligonucleotides;2023-04-01

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