called SERPINA1, which stands forserpin peptidase inhibitor(丝氨酸蛋白酶抑制剂), clade A, member 1.While some mutations in SERPINA1 completely abolish the genemessage meaning no protein,others like the most common mutation, called Pi*Z, results in a misfolded alpha-1 antitrypsinprotein being made....
In the patients with results available, serum AAT levels were below the treatable range in the case of SZ and ZZ mutations (see Fig. 1). Fig. 1 Alpha-1 antitrypsin levels in patients with mutation Full size imageDiscussion Having previously been regarded as rare, AATD is now considered to...