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
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Respiratory medicine case reports
2021年32卷
101345页
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