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A new SERPINA-1 missense mutation associated with alpha-1 antitrypsin deficiency and bronchiectasis
Lung, 2017 Alpha-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 ...
Giovanna Elisiana Carpagnano +2 more
exaly +7 more sources
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3.1 Molecular Pathology and Functional Genomics, 2016
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
Victoria Lorenzon +4 more
openaire +1 more source
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
Victoria Lorenzon +4 more
openaire +1 more source
SERPINA2 Is a Novel Gene with a Divergent Function from SERPINA1
PLoS ONE, 2013Patricia Isabel Marques +2 more
exaly