Further acatalasemia mutations in human patients from Hungary with diabetes and microcytic anemia

Terez Nagy,Erika Paszti,Miklos Kaplar,Harjit Pal Bhattoa,Laszlo Goth

Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis（2015）

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摘要

•617 patients were screened for blood catalase activity.•8.3% presented with less than half of reference blood catalase activity.•Catalase gene exons were examined with screening and sequencing for this 8.3%.•We found four new mutations in three patients with microcytic anemia and four with diabetes.•Acatalasemia may contribute to type 2 diabetes mellitus and microcytic anemia.

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关键词

Blood catalase,Catalase decrease,Mutation screening,Novel catalase exon mutations,Diabetes mellitus,Microcytic anemia

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