Severe hemophilia A caused by an unbalanced chromosomal rearrangement identified using nanopore sequencing-Reference-Cited by-同舟云学术

Severe hemophilia A caused by an unbalanced chromosomal rearrangement identified using nanopore sequencing

Published:2019-05-20 Issue:7 Volume:17 Page:1097-1103
ISSN:1538-7933
Container-title:Journal of Thrombosis and Haemostasis
language:en
Short-container-title:J Thromb Haemost

Author:

Chatron Nicolas¹²,Schluth‐Bolard Caroline¹²,Frétigny Mathilde³,Labalme Audrey¹,Vilchez Gaëlle⁴,Castet Sabine‐Marie⁵,Négrier Claude³⁶,Sanlaville Damien¹²,Vinciguerra Christine³⁶,Jourdy Yohann³⁶^ORCID

Affiliation:

1. Service de génétique Groupe Hospitalier Est Hospices Civils de Lyon Bron France

2. CRNL équipe GENDEV INSERM U1028 CNRS UMR5292Université Claude Bernard Lyon France

3. Groupe Hospitalier Est Hospices Civils de Lyon Bron France

4. Groupe Hospitalier Est Cellule bioinformatique de la plateforme de séquençage NGS du CHU de Lyon Bron France

5. Centre de ressources et compétences‐maladies hémorragiques constitutionnelles Hôpital Universitaire de Bordeaux Bordeaux France

6. EA 4609 Hémostase et cancer Université Claude Bernard Lyon France

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jth.14460

Reference17 articles.

1. Definitions in Hemophilia

2. Factor VIII gene inversions in severe hemophilia A: results of an international consortium study;Antonarakis SE;Blood,1995

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

4. Analysis of mRNA in hemophilia A patients with undetectable mutations reveals normal splicing in the factor VIII gene

5. Genetic diagnosis in hemophilia and von Willebrand disease

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