Diamond-Blackfan anaemia caused by a de novo initiation codon mutation resulting in a shorter isoform of GATA1-MedSci.cn

Diamond-Blackfan anaemia caused by a de novo initiation codon mutation resulting in a shorter isoform of GATA1

Chen, TT; Zhang, QQ; Shang, X; Zou, SM; Qin, JF; Li, K; Lin, B; Tao, ZZ; Long, XJ; Xu, XM

Xu, XM (通讯作者)，Southern Med Univ, Sch Basic Med Sci, Dept Med Genet, Guangzhou 510515, Peoples R China.;Long, XJ (通讯作者)，Liuzhou Peoples Hosp, Dept Pediat, Liuzhou 545001, Peoples R China.;Xu, XM (通讯作者)，Southern Med Univ, Nanfang Hosp, Innovat Res Ctr Diag & Therapy Thalassemias, Guangzhou 510515, Peoples R China.

Abstract

Diamond-Blackfan anaemia (DBA) is an inherited marrow failure disorder characterised by selective erythroid aplasia. Herein, we reported a case of DBA......

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Diamond-Blackfan anaemia caused by a de novo initiation codon mutation resulting in a shorter isoform of GATA1

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