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SERPINA1 Gene Variants in Granulomatosis with Polyangiitis
Alpha-1 antitrypsin (A1AT) deficiency is one of the most common genetic disorders in Caucasian population. There is a link between granulomatosis with polyangiitis (GPA) and most frequent variants of SERPINA1 gene encoding severe alpha-1 antitripsin deficiency
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SERPINA1 mRNA as a Treatment for Alpha-1 Antitrypsin Deficiency
Alpha-1-antitrypsin (AAT) deficiency is a genetic disorder that produces inactive/defective AAT due tomutations in the SERPINA1 gene encoding AAT. This disease is associated with decreased activity of AAT in the lungs and deposition of excessive defective AAT protein in the liver. Currently there is no specific treatment for liver disease associated with AAT deficiency. AAT lung disease is o…
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SERPINA1 and MAN1B1 polymorphisms are not linked to severe liver disease in a…
Fifteen to twenty percent of alpha-1 antitrypsin deficiency patients (A1ATD) have a severe liver outcome (portal hypertension -PHT) during childhood. Since they all share the same ZZ SERPINA1 genotype and that environmental factors such as alcohol cannot be advanced, the presence of modifier genes is now well recognized. SNPs located on the SERPINA1 and MAN1B1 genes have already been tes…
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