Article
Rapid detection of Mmalton α1-antitrypsin deficiency allele by real-time PCR and melting curves in whole blood, serum and dried blood spot samples.
Clinical chemistry and laboratory medicine - 1 Feb 2016
Belmonte Irene, Montoto Luciana, Miravitlles Marc, Barrecheguren Miriam, Esquinas Cristina, Rodríguez Esther, Giralt Marina, Rodríguez-Frías Francisco
Abstract excerpt
BACKGROUND: α1-Antitrypsin deficiency (AATD) is an autosomal codominant disorder associated with a high risk of developing lung and liver disease. The most common deficient alleles are known as Z and S. However, another deficient variant, called Mmalton, which causes a deficiency similar to variant Z, is considered to be the second cause of severe AATD in Spain. Nevertheless, the Mmalton allele is not...
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