Missense mutation in RPS7 causes Diamond-Blackfan anemia via alteration of erythrocyte metabolism, protein translation and induction of ribosomal stress

Kubickova, A; Maceckova, Z; Vojta, P; Ondra, M; Volejnikova, J; Koralkova, P; Jungova, A; Jahoda, O; Mojzikova, R; Hadacova, I; Cermak, J; Horvathova, M; Pospisilova, D; Hajduch, M

Hajduch, M (通讯作者)，Palacky Univ Olomouc, Inst Mol & Translat Med, Hnevotinska 1333-5, Olomouc 77900, Czech Republic.;Pospisilova, D (通讯作者)，Palacky Univ, Dept Paediat, Fac Med & Dent, IP Pavlova 6, Olomouc 77900, Czech Republic.;Pospisilova, D (通讯作者)，Univ Hosp Olomouc, IP Pavlova 6, Olomouc 77900, Czech Republic.

BLOOD CELLS MOLECULES AND DISEASES, 2022; 97 ():

Abstract

Diamond-Blackfan anemia (DBA) is predominantly underlined by mutations in genes encoding ribosomal proteins (RP); however, its etiology remains unexpl......

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