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Updated: Jul 4, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

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

Published on: August 20, 2019

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ADAMTSL2 突变决定了 Geleophysic 发育不良症的表型严重程度

Vladimir Camarena1, Monique M Williams2,3, Alejo A Morales1

  • 1Dr. John T. Macdonald Foundation Department of Human Genetics.

JCI insight
|February 1, 2024
PubMed
概括

Geleophysic Dysplasia-1 (GD1) 是由 ADAMTSL2 变体引起的,导致心肺呼吸系统问题. 损伤的ADAMTSL2分泌与疾病严重程度相关,如细胞和小鼠模型所示.

关键词:
细胞外矩阵是细胞外矩阵.遗传性疾病是一种遗传性疾病.遗传学 遗传学 是一个分子遗传学 分子遗传学

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