A Proteomic Study Based on Home Quarantine Model Identifies NQO1 and Inflammation Pathways Involved in Adenoid Hypertrophy. [PDF]
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A New SERPINA-1 Missense Mutation Associated with Alpha-1 Antitrypsin Deficiency and Bronchiectasis
Lung, 2017Alpha-1-antitrypsin deficiency (AATD) is a genetic condition caused by SERPINA1 mutations, which culminates into lower protease inhibitor activity in the serum and predisposes to emphysema. Clinical manifestations of AATD are often associated to ZZ (p.Glu342Lys) and SZ (p.Glu264Val) genotypes and less frequently to rare deficiency or null alleles in ...
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Alpha-1-antitrypsin deficiency (DAAT) is an autosomal codominant disorder that predisposes to chronic obstructive pulmonary disease (COPD) and liver disease.A plasma concentration below 50mg/dL is considered to represent a relevant deficiency.It is caused by inheritance of 2 severe deficiency alleles of the SERPINA-1 gene located on chr14.We report the
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