tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy.
Eur. J. Hum. Genet.2017 May;25(5):545-551. Epub 2017 Mar 08
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摘要
A biosynthesis defect in human. KAE1 joins the growing list of cytoplasmic tRNA modification enzymes, all associated with severe neurological disorders.
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基因功能
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原始数据
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文献解读
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