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Functionally impaired RPL8 variants associated with Diamond-Blackfan anemia and a Diamond-Blackfan anemia-like phenotype

Lebaron, S; O'donohue, MF; Smith, SC; Engleman, KL; Juusola, J; Safina, NP; Thiffault, I; Saunders, CJ; Gleizes, PE

Gleizes, PE (通讯作者),Univ Toulouse, Ctr Biol Integrat CBI, Mol Cellular & Dev Biol Dept MCD, CNRS, UT3, F-31062 Toulouse, France.;Saunders, CJ (通讯作者),Childrens Mercy Hosp, Dept Pathol & Lab Med, Kansas City, MO 64108 USA.

HUMAN MUTATION, 2022; 43 (3): 389

Abstract

Diamond-Blackfan anemia is a rare genetic disease characterized by erythroblastopenia and a large spectrum of developmental anomalies. The vast majori......

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