The S-type α1-antitrypsin (α1AT) deficiency allele differs from the normal M1 (Val 213) allele
by a single amino acid substitution (Glu 264→ Val). To evaluate the molecular …

Abstract α1-Antitrypsin (α1AT) is a major protease inhibitor present in high concentrations in
the plasma. Inheritance of α1AT deficiency or null alleles (alleles associated with no …

Alpha-1-antitrypsin (A1AT) deficiency is an autosomal hereditary disorder associated with a
major reduction in serum A1AT levels. Clinically, A1AT deficiency is associated with …

Abstract α1-Antitrypsin (AAT) deficiency is associated with predisposition to developing liver
cirrhosis in early childhood, and chronic degenerative lung disease in early adult life. The …

Mnichinan, a variant of alpha 1-antitrypsin (alpha 1-AT) was detected in a Japanese
individual with serum alpha 1-AT deficiency (18 mg/dl), associated with aggregated alpha 1 …

α1-Antitrypsin (α1AT) deficiency is characterized by reduced serum levels of α1AT and a risk
for the development of emphysema and liver disease. However, whereas there is an …

This study reports the entire nucleotide sequence of the protein coding region sequence of
the alpha 1-antitrypsin (alpha 1AT) Z gene, a common form of the alpha 1AT gene …

The genetic variants and phenotypes for alpha 1-antitrypsin (AAT) in human serum can be
determined by electrophoresis of serum on acid-starch gels and antigen-antibody crossed …

Z (Glu 342→ Lys) and S iiyama (Ser 53→ Phe) genetic variations of human α 1-antitrypsin (α
1-AT) cause a secretion blockage in the hepatocytes, leading to α 1-AT deficiency in the …

Summary Alpha‐1 antitrypsin (A1AT) is a serine anti‐protease produced chiefly by the liver.
A1AT deficiency is a genetic disorder characterized by serum levels of less than 11 μmol/L …