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影响RNA加工和翻译的人类基因突变。

Human gene mutations affecting RNA processing and translation.

作者信息

Cooper D N

机构信息

Charter Molecular Genetics Laboratory, Thrombosis Research Institute, London, U.K.

出版信息

Ann Med. 1993 Feb;25(1):11-7. doi: 10.3109/07853899309147851.

DOI:10.3109/07853899309147851
PMID:8435181
Abstract

Gene mutations affecting mRNA processing and translation are not common causes of human genetic disease. Their analysis has nevertheless provided important insights into the basic biochemical mechanisms underlying mRNA transcription and translation.

摘要

影响mRNA加工和翻译的基因突变并非人类遗传疾病的常见病因。然而,对它们的分析为深入了解mRNA转录和翻译背后的基本生化机制提供了重要见解。

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A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis.在一个显性遗传性球形红细胞增多症家系中,红细胞带3基因的无义突变与mRNA积累减少相关。
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