Katrin Milger Lesca Miriam Holdt Daniel Teupser Rudolf Maria Huber Jürgen Behr Nikolaus Kneidinger
10.2147/COPD.S80173
Int J Chron Obstruct Pulmon Dis
2015 May 7;10:891-7.
serpina-1 mutation alpha-1 antitrypsin deficiency bronchiectasis pulmonary embolism
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/26005342/
Bronchiectasis / etiology Mutagenesis, Insertional Pulmonary Disease, Chronic Obstructive / genetics Pulmonary Embolism / etiology alpha 1-Antitrypsin / genetics alpha 1-Antitrypsin Deficiency / genetics
Bronchiectasis / etiology Mutagenesis, Insertional Pulmonary Disease, Chronic Obstructive / genetics Pulmonary Embolism / etiology alpha 1-Antitrypsin / genetics alpha 1-Antitrypsin Deficiency / genetics Case Reports Adult Bronchiectasis / diagnosis Bronchiectasis / enzymology Bronchiectasis / therapy DNA Mutational Analysis Electrophoresis, Capillary Exons Female Genetic Predisposition to Disease Homozygote Humans Phenotype Predictive Value of Tests Pulmonary Disease, Chronic Obstructive / diagnosis Pulmonary Disease, Chronic Obstructive / enzymology Pulmonary Disease, Chronic Obstructive / therapy Pulmonary Embolism / diagnosis Pulmonary Embolism / enzymology Pulmonary Embolism / therapy Risk Factors Severity of Illness Index Tomography, X-Ray Computed alpha 1-Antitrypsin / metabolism alpha 1-Antitrypsin Deficiency / complications alpha 1-Antitrypsin Deficiency / diagnosis alpha 1-Antitrypsin Deficiency / enzymology alpha 1-Antitrypsin Deficiency / therapy SERPINA1 protein, human alpha 1-Antitrypsin
PMC4428364
26005342
Identification of a novel SERPINA-1 mutation causing alpha-1 antitrypsin deficiency in a patient with severe bronchiectasis and pulmonary embolism
2015