原始侏儒症的一个新原因被揭示:tRNA修饰缺陷。

IF 12.3 1区生物学 Q1 Agricultural and Biological Sciences

Genome Biology Pub Date : 2015-10-01 DOI:10.1186/s13059-015-0786-y

Liudmila Filonava, Adrian Gabriel Torres, Lluis Ribas de Pouplana

引用次数: 10

摘要

编码tRNA修饰酶的WDR4基因突变导致原始侏儒症患者tRNA中鸟苷甲基化水平降低。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

A novel cause for primordial dwarfism revealed: defective tRNA modification.

A mutation in the WDR4 gene, coding for a tRNA-modifying enzyme, leads to reduced levels of guanosine methylation in tRNA in patients with primordial dwarfism.

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来源期刊

Genome Biology BIOTECHNOLOGY & APPLIED MICROBIOLOGY-GENETICS & HEREDITY

CiteScore

25.50

自引率

3.30%

发文量

审稿时长

14 weeks

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