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Updated: Jan 9, 2026

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具有高汗化物水平的个体的特征导致 CFTR 变异不存在

Ishmam Bhuiyan1, Frank Y Chou2, James M Roberts3

  • 1Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.

Orphanet journal of rare diseases
|November 29, 2025
PubMed
概括

患有囊性纤维化样症状和高汗液化物水平但没有CFTR变异的患者具有明显的临床特征. 与囊性纤维化控制人群相比,这些人患肺部问题和CF并发症较少.

关键词:
在CFTR中,CFTR是最重要的.囊性纤维化症是什么诊断 诊断 诊断 诊断 诊断遗传学 是一个遗传学.汗水化物 汗水化物

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