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Alpha-1 antitrypsin deficiency with severe pulmonary emphysema



Alpha-1 antitrypsin deficiency with severe pulmonary emphysema



Internal Medicine 43(3): 223-226



Alpha-1 antitrypsin (AAT) deficiency is a hereditary disorder characterized by an early onset of emphysema. While this disease is common in the Caucasian population, it is quite rare in Japan. To date, only 15 traits have been reported and it can be speculated that many cases of this genetic deficiency may have been overlooked. We report an additional case of AAT deficiency with severe emphysema that is genetically determined as S(iiyama) variant by allele-specific polymerase chain reaction (PCR) analysis.

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Accession: 011741292

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PMID: 15098605

DOI: 10.2169/internalmedicine.43.223


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