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Updated: Jul 24, 2025

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无意义的突变加快了肺部疾病,并降低了囊性纤维化儿童的生存率

Annalisa Orenti1, Iwona Pranke2, Caroline Faucon3

  • 1Department of Clinical Sciences and Community Health, Laboratory of Medical Statistics, Biometry and Epidemiology "G. A. Maccacaro", University of Milan, Milan, Italy.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society
|July 8, 2023
PubMed
概括

患有囊性纤维化 (pwCF) 两种无意义突变 (PTC/PTC) 的患者经历了更快的肺功能下降和更高的死亡率. 这项研究强调了PTC/PTC突变对CF进展和生存的严重影响.

关键词:
囊性纤维化 (MeSH:DO008550) 的情况囊性纤维化通过膜导电调节器 (MeSH:DO19005)过早终止的编码子 (MeSH:DO:18389)

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