The highly prevalent deletions in F8 intron 13 found in French mild hemophilia A patients result from both founder effect and recurrent de novo events-Reference-Cited by-同舟云学术

The highly prevalent deletions in F8 intron 13 found in French mild hemophilia A patients result from both founder effect and recurrent de novo events

Published:2020-03-20 Issue:5 Volume:18 Page:1087-1093
ISSN:1538-7933
Container-title:Journal of Thrombosis and Haemostasis
language:en
Short-container-title:J Thromb Haemost

Author:

Jourdy Yohann¹²^ORCID,Frétigny Mathilde¹,Lassalle Fanny³⁴^ORCID,Lillicrap David⁵,Négrier Claude¹²,Vinciguerra Christine¹²

Affiliation:

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

2. Equipe d’accueil EA 4609 Hémostase et Cancer Université Claude Bernard Lyon 1 Lyon France

3. Inserm U1011 ‐ EGID Institut Pasteur de Lille Université de Lille CHU Lille Lille France

4. Hematology and Transfusion CHU Lille Lille France

5. Department of Pathology and Molecular Medicine Queen's University Kingston ON Canada

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jth.14771

Reference21 articles.

1. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

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

3. A recurrent F8 mutation (c.6046C>T) causing hemophilia A in 8% of northern Italian patients: evidence for a founder effect

4. A recurrent F8 mutation in Irish haemophilia A patients: evidence for a founder effect

5. A Founder Factor VII Mutation, Valine 2016 to Alanine, in a Population with an Extraordinarily High Prevalence of Mild Hemophilia A

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1. Genome editing of patient-derived iPSCs identifies a deep intronic variant causing aberrant splicing in hemophilia A;Blood Advances;2023-11-17

2. 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

3. Accessibility and visibility of genetic testing for haemophilia across Europe: Where do we stand?;Haemophilia;2022-10-12

4. The challenge of genetically unresolved haemophilia A patients: Interest of the combination of whole F8 gene sequencing and functional assays;Haemophilia;2020-10-23

5. Identification of new F8 deep intronic variations in patients with haemophilia A;Haemophilia;2020-08-18