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Updated: Sep 10, 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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在MAN1B1中双基功能丧失变异导致拉菲克综合征和发育迟缓

Liyu Zang1, Yaoling Han1, Qiumeng Zhang1

  • 1MOE Key Laboratory of Rare Pediatric Diseases & Hunan Key Laboratory of Medical Genetics of the School of Life Sciences, Central South University, Changsha 410078, China.

International journal of molecular sciences
|August 28, 2025
PubMed
概括

拉菲克综合征是一种罕见的遗传疾病,由MAN1B1基因突变引起. 这项研究发现了一种新的突变,

关键词:
一个男孩拉菲克综合征智力障碍神经元发育

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