Article
The mechanism of Z alpha 1-antitrypsin accumulation in the liver.
Nature - 18 Jun 1992
Lomas D A, Evans D L, Finch J T, Carrell R W
Abstract excerpt
Most northern Europeans have only the normal M form of the plasma protease inhibitor alpha 1-antitrypsin, but some 4% are heterozygotes for the Z deficiency variant. For reasons that have not been well-understood, the Z mutation results in a blockage in the final stage of processing of antitrypsin in the liver such that in the Z homozygote only 15% of the protein is secreted into the plasma. The 85% of the alpha...
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