Article
Reinvestigation of unidentified causative variants in FXI-deficient patients: Focus on gene segment deletions.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 Jan 2023
De Mazancourt Philippe, Harroche Annie, Pouymayou Katia, Sigaud Marianne, Falaise Céline, Stieltjes Natalie, Castet Sabine-Marie, Tardy Brigitte, Zawadzki Christophe, Goudemand Jenny, Dargaud Yesim
Abstract excerpt
INTRODUCTION: Data on failure to identify the molecular mechanism underlying FXI deficiency by Sanger analysis and the contribution of gene segment deletions are almost inexistent. AIMS AND METHODS: Prospective and retrospective analysis was conducted on FXI-deficient patients' DNA via Next Generation Sequencing (NGS), or Sanger sequencing and Multiplex Probe Ligation-dependent Assay (MLPA) to detect cryptic...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.