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Updated: May 11, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

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PiComplutense (p.Pro393Thr):一种新型的SERPINA1变体在两个兄弟姐妹中发现的α-1抗素缺乏症

Juan Luis Rodríguez Hermosa1,2,3, Soha Esmaili1,4, Sofía Ayat Ortiz1

  • 1Pulmonology Department. Hospital Clínico San Carlos, Instituto de Investigación Sanitaria Del Hospital Clínico San Carlos (IdISSC), Madrid, Spain.

Respiratory medicine case reports
|October 10, 2025
PubMed
概括

两位患有阿尔法-1抗素缺乏症 (AATD) 和不一致的表型的姐妹被发现携带了一种新的SERPINA1变异 (PiComplutense) 与Z等位基因一起. 这凸显了完整基因测序对于诊断罕见的AATD变异的重要性.

关键词:
阿尔法-1 抗素缺乏症编码 393 编码 393.突发性瘤是什么意思遗传诊断是一种基因诊断.这就是PiComplutense的完整性.罕见的变种是一种罕见的变种.塞尔皮纳 (SERPINA) 是一个名字.

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