Article
Identification of a novel alpha1-antitrypsin null variant (Q0Cairo).
Diagnostic molecular pathology : the American journal of surgical pathology, part B - 1 Jun 2005
Zorzetto Michele, Ferrarotti Ilaria, Campo Ilaria, Balestrino Antonella, Nava Stefano, Gorrini Marina, Scabini Roberta, Mazzola Paola, Luisetti Maurizio
Abstract excerpt
Alpha1-antitrypsin deficiency (AATD) is a common hereditary disorder associated with high risk of developing pulmonary emphysema early in life and, to a lesser extent, chronic liver disease and cirrhosis. Among Northern Europeans and Northern Americans, more than 95% of individuals with emphysema associated with AATD carry the most frequent AAT deficient gene variants, PI*Z and PI*S. Rare AAT deficient variants...
Topics
- Adolescent
- Alleles
- Amino Acid Sequence
- Base Sequence
- Humans
- Male
- Molecular Sequence Data
- Mutation
- alpha 1-Antitrypsin
- alpha 1-Antitrypsin Deficiency