换一批
换一批Clinical presentations of four patients with rare Alpha 1 Antitrypsin variants identified in a single US center.
第一作者：
Friedrich,Kueppers
第一单位：
Lewis Katz School of Medicine at Temple University, Department of Thoracic Surgery and Medicine, Medicine Education and Research Building (MERB), 3500 N. Broad Street, Philadelphia, PA, 19140, USA.
作者：
关键词
AAT, Alpha 1 AntitrypsinAATD, Alpha 1 Antitrypsin DeficiencyAlpha 1 AntitrypsinAlpha 1 Antitrypsin DeficiencyCIDP, chronic inflammatory demyelinating polyneuropathyCOPD, chronic obstructive pulmonary diseaseCT, computed tomographyDiagnostic testsFEV1, forced expiratory volume in 1?sFVC, forced vital capacityIEF, isoelectric focusingMutationNGS, next-generation sequencingNovel variantsPCR, polymerase chain reactionSERPINA1
DOI
10.1016/j.rmcr.2021.101345
PMID
33552892
发布时间
2021-02-10
- 浏览0
Respiratory medicine case reports
2021年32卷
101345页
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