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Identification of a novelSERPINA-1mutation causing alpha-1 antitrypsin deficiency in a patient with severe dyspnea

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

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