Prevalence of α1-antitrypsin deficiency alleles PI*S and PI*Z worldwide and effective screening for each of the five phenotypic classes PI*MS, PI*MZ, PI*SS, PI*SZ, and PI*ZZ: a comprehensive review
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چکیده
منابع مشابه
Estimating the risk for alpha-1 antitrypsin deficiency among COPD patients: evidence supporting targeted screening.
Alpha-1 antitrypsin deficiency is known as a significant genetic risk factor for COPD for carriers of phenotype PIMZ, and for phenotypes PIZZ and PISZ. Genetic epidemiological studies for alpha-1 antitrypsin deficiency conducted by others on both COPD patients and concurrent non-COPD controls were used to estimate the risk factors for all six phenotypic classes (namely, the normal phenotype PIM...
متن کاملAlpha-1 antitrypsin deficiency in Italy: regional differences of the PIS and PIZ deficiency alleles.
BACKGROUND Critical to the effective diagnosis and management of disease is information on its prevalence in a particular geographic area such as Italy. Alpha-1 antitrypsin deficiency (AAT Deficiency) is one of the most common serious hereditary diseases in the world, but its prevalence varies markedly from one country to another. AAT Deficiency affects at least 120.5 million carriers and defic...
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چکیده ندارد.
Alpha-1 antitrypsin deficiency is not a rare disease but a disease that is rarely diagnosed.
Articles in the literature on alpha-1 antitrypsin (AAT) deficiency have been interpreted as indicating that AAT deficiency is a rare disease that affects mainly Caucasians (whites) from northern Europe. In a recent publication on the worldwide racial and ethnic distribution of AAT deficiency, new data were presented demonstrating that it is also found in various populations of African blacks; A...
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ژورنال
عنوان ژورنال: Therapeutic Advances in Respiratory Disease
سال: 2012
ISSN: 1753-4666,1753-4666
DOI: 10.1177/1753465812457113