1-Antitrypsin deficiency {middle dot} 1: Epidemiology of 1-antitrypsin deficiency
Open Access
- 1 February 2004
- Vol. 59 (2), 164-169
- https://doi.org/10.1136/thorax.2003.006494
Abstract
The protein and molecular characteristics of variants of the α1-antitrypsin (AAT) gene are described, and available data on the genetic epidemiology of AAT deficiency are presented.Keywords
This publication has 42 references indexed in Scilit:
- 1-antitrypsin deficiency: a report from the 2nd meeting of the Alpha One International Registry, Rapallo (Genoa, Italy), 2001European Respiratory Journal, 2002
- Development of Knowledge-Based Systems – a ReviewTransfusion Medicine and Hemotherapy, 2001
- Patterns of haplotype diversity within the serpin gene cluster at 14q32.1: insights into the natural history of the α1-antitrypsin polymorphismHuman Genetics, 2001
- Report of the committee on the genetic constitution of chromosome 14Cytogenetic and Genome Research, 1990
- Molecular evolution of serpins: homologous structure of the human .alpha.1-antichymotrypsin and .alpha.1-antitrypsin genesBiochemistry, 1987
- Alpha-1-Antitrypsin (Pi) Subtypes in the Spanish Basque ProvincesHuman Heredity, 1987
- DNA restriction fragments associated with α1-antitrypsin indicate a single origin for deficiency allele PI ZNature, 1985
- Distribution of the Pi, TfC, and Gc subtypes in Galicia (North West Spain)International journal of legal medicine, 1983
- Alpha 1-antitrypsin screening of 18-year-old men.Thorax, 1979
- Serum Pi Types in Some Lappish and Finnish PopulationsHuman Heredity, 1969