Open AccessPB2235: COMPLETE DELETION OF THE CACCC BOX OF THE HBB GENE PROMOTER: A NEW MECHANISM LEADING TO A SILENT PHENOTYPE OF BETA THALASSEMIA
Author(s) -
Mondesert E.,
GIANSILYBLAIZOT M.,
DELAGE J.,
DANTON F.,
AGUILARMARTINEZ P.
Publication year - 2022
Publication title -
hemasphere
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.677
H-Index - 11
ISSN - 2572-9241
DOI - 10.1097/01.hs9.0000851768.05486.cf
Subject(s) - genetics , proband , biology , multiplex ligation dependent probe amplification , gene , beta thalassemia , microbiology and biotechnology , thalassemia , mutation , exon