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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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MAN1B1のバイアレル機能喪失変異はラフィック症候群と発達遅延を引き起こす

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
まとめ

ラフィク症候群は珍しい遺伝疾患で MAN1B1遺伝子の変異によって引き起こされます この研究は新しい変異を特定し MAN1B1を明らかにしました

キーワード:
MAN1B1 についてラフィク症候群知的障害ニューロンの発達

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