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Several infrequent genetic polymorphisms in the SERPINA1 gene are known to substantially reduce concentration of alpha1-antitrypsinAATin the bloodSince low AAT serum levels fail to protect pulmonary tissue from enzymatic degradationthese polymorphisms also increase the risk for early onset chronic obstructive pulmonary diseaseCOPDThe role of more common SERPINA1 single nucleotide polymorphismsSNPsin respiratory health remains poorly understood.
This section provides information on the tertiary and secondary structure of a protein.
AffiliationDivision of Pulmonary MedicineUniversity Hospital of GenevaGenevaSwitzerland.
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