Alpha-1 Antitrypsin Mutations: Is One Too Many?
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چکیده
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BACKGROUND Alpha-1 antitrypsin (AAT) deficiency is an autosomal-codominant disorder, caused by mutations in the SERPINA1 gene on chromosome 14. Individuals affected by the most common mutations, SZ and ZZ, have serum AAT concentrations of 25% and 15% of normal levels, and present a higher risk of emphysema. Mutations causing total absence of serum AAT (Null mutations) were suggested to be assoc...
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ژورنال
عنوان ژورنال: American Journal of Respiratory and Critical Care Medicine
سال: 2020
ISSN: 1073-449X,1535-4970
DOI: 10.1164/rccm.201911-2209ed