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Updated: Jun 23, 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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基因组和RNA测序对于揭示与缺陷的ATP6AP1mRNA处理相关的神秘内在变异至关重要

Blai Morales-Romero1, Gerard Muñoz-Pujol1, Rafael Artuch2

  • 1Section of Inborn Errors of Metabolism-IBC, Biochemistry and Molecular Genetics Department, Hospital Clínic de Barcelona, IDIBAPS, CIBERER, ISCIII, Barcelona, Spain.

Molecular genetics and metabolism
|June 15, 2024
PubMed
概括

RNA测序 (RNA-seq) 和全基因组测序 (WGS) 改善了先天性糖化 (CDG) 疾病的诊断. 这项研究发现了新的ATP6AP1基因变异,提高了罕见遗传疾病的诊断能力.

关键词:
它们是ATP6AP1-CDG.葡萄糖化先天性疾病内部变种是一种内部变种.在RNA-seqqq.整个外基因组的测序.整个基因组的测序.

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Translation01:31

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