Whole-exome sequencing to identify genetic risk variants underlying inhibitor development in severe hemophilia A patients-Reference-Cited by-同舟云学术

Whole-exome sequencing to identify genetic risk variants underlying inhibitor development in severe hemophilia A patients

Published:2016-06-09 Issue:23 Volume:127 Page:2924-2933
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Gorski Marcin M.¹^ORCID,Blighe Kevin²,Lotta Luca A.²,Pappalardo Emanuela¹^ORCID,Garagiola Isabella¹^ORCID,Mancini Ilaria¹^ORCID,Mancuso Maria Elisa²^ORCID,Fasulo Maria Rosaria²,Santagostino Elena²,Peyvandi Flora¹²^ORCID

Affiliation:

1. Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy; and

2. Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Ca' Granda, Ospedale Maggiore Policlinico and Fondazione Luigi Villa, Milan, Italy

Abstract

Key Points Exome sequencing of severe hemophilia A patients with/without inhibitors identified rare, damaging variants in immunoregulatory genes. Replication confirmed the association of rs3754689 in a conserved haplotype region surrounding the LCT locus with inhibitor development.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/127/23/2924/1394347/2924.pdf

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