1:

Ilaria Ferrarotti1, Marion Wencker2, Joanna Chorostowska-Wynimko3

  • 1Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Department of Internal Medicine and Therapeutics, Pneumology Unit, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy. I.Ferrarotti@smatteo.pv.it.

PubMed
概括

阿尔法1抗素缺乏症 (AATD) 比以前想象的更为常见,许多罕见的变异有助于这种情况. 综合基因检测对于准确的诊断和改善患者的治疗结果至关重要.

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