Alpha 1-antitrypsin levels can differentiate allelic phenotypes

Alpha 1 anti-trypsin (A1AT) is a liver protein whose deficiency results in a low A1AT plasma level and is caused by either homozygosity or compound heterozygosity for its mutant Z or S alleles [1]. A1AT heterozygosity has been shown to have a role as a modifier of other chronic liver diseases, however there is lack of data on A1AT plasma levels in such heterozygous phenotypes [2].

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