Sanger sequencing solved a cryptic case of severe alpha₁-antitrypsin deficiency. [electronic resource]
Producer: 20120629Description: 499-501 p. digitalISSN:- 1873-2933
- Genetic Association Studies
- Genotype
- Humans
- Male
- Middle Aged
- Mutation, Missense
- Pedigree
- Pulmonary Disease, Chronic Obstructive -- diagnostic imaging
- Pulmonary Emphysema -- diagnostic imaging
- Radiography
- Sequence Analysis, DNA
- alpha 1-Antitrypsin -- genetics
- alpha 1-Antitrypsin Deficiency -- complications
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Publication Type: Case Reports; Journal Article
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