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Updated: Jul 4, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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DHDDS和NUS1:一个融合的途径和共同的表型

Laura J Williams1, Sophie Waller1, Jessica Qiu1

  • 1Movement Disorder Unit, Department of Neurology, Westmead Hospital, Westmead, New South Wales, Australia.

Movement disorders clinical practice
|January 31, 2024
PubMed
概括

脱水多利二酸合成酶 (DHDDS) 和核无二酸合成酶1 (NUS1) 的变体导致共同的神经发育和运动障碍. 早期识别这种表型有助于通过遗传检测进行诊断.

关键词:
这就是DHDDS.一个NUS1一个NUS1没有 B 型受体.脱rodolichol二酸盐合成酶的使用方法多利霍尔生物合成

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