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Updated: Jan 7, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

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解读了三种NKX2-1变异在儿童间歇性肺病的超严重形式中的病原性

Yohan David Soreze1,2, Tifenn Desroziers-Louedec1, Aurore Carré3

  • 1INSERM, UMR_S933 Childhood genetic diseases, Armand Trousseau Hospital, Paris, France.

PloS one
|December 19, 2025
PubMed
概括

两个NKX2-1变异,p.(Tyr214Cys) 和p.(Arg165Trp),是致病性,并导致严重的肺病. 在这项关于儿童间歇性肺病的研究中,p.(Gly147Ala) 变异没有显示出致病作用.

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