Whole F8 gene sequencing identified pathogenic structural variants in the remaining unsolved patients with severe hemophilia A-Reference-Cited by-同舟云学术

Whole F8 gene sequencing identified pathogenic structural variants in the remaining unsolved patients with severe hemophilia A

Published:2024-06 Issue:6 Volume:22 Page:1616-1626
ISSN:1538-7836
Container-title:Journal of Thrombosis and Haemostasis
language:en
Short-container-title:Journal of Thrombosis and Haemostasis

Author:

Jourdy Yohann^ORCID,Chatron Nicolas,Frétigny Mathilde,Zawadzki Christophe,Lienhart Anne,Stieltjes Natalie,Rohrlich Pierre-Simon,Thauvin-Robinet Christel,Volot Fabienne,Hamida Yasmine Ferhat,Hariti Ghania,Leuci Alexandre,Dargaud Yesim,Sanlaville Damien,Vinciguerra Christine

Publisher

Elsevier BV

Reference35 articles.

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3. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A;Bagnall;Blood,2002

4. Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative;Johnsen;Blood Adv,2017

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1. Detection of hemophilia A genetic variants using third-generation long-read sequencing;Clinica Chimica Acta;2024-08