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Updated: Jan 16, 2026

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由于阿尔法-1抗素缺乏而导致的支气管切除症中的Pi*M帕勒莫突变:一种罕见的遗传原因

Beyza Yildirimli1, Coskun Dogan1, Elif Yilmaz Gulec2

  • 1Istanbul Medeniyet University Faculty of Medicine, Department of Pulmonology, Istanbul, Türkiye.

Medeniyet medical journal
|September 29, 2025
PubMed
概括

支气管切除症是一种慢性肺部疾病,可能源于罕见的遗传疾病,如α-1抗素 (AAT) 缺乏. 这一案例突出了Pi*M Palermo突变,作为AAT缺乏相关支气管切除症的以前未被认可的原因.

关键词:
阿尔法-1抗素是一种抗素.M 帕勒莫突变是一种突变.支气管切除症是一种支气管切除症.

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