Open AccessP1065: CONGENITAL ERYTHROCYTOSIS DUE TO HETEROZYGOUS VARIANTS IN THE BISPHOSPHOGLYCERATE MUTASE GENE
Author(s) -
Dijk M. J.,
Oirschot B. A.,
StamSlob M. C.,
Zwaag B.,
Beers E. J.,
Jans J. J.,
Linden P.,
Torregrosa Diaz J. M.,
Gardie B.,
Girodon F.,
Schots R.,
Thielen N.,
Wijk R.
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.hs9.0000847128.24406.8a
Subject(s) - biology , genetics , exon , gene , missense mutation , microbiology and biotechnology , compound heterozygosity , mutation