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ALPHA 1 ANTITRYPSIN DEFICIENCY--GENOTYPE/PHENOTYPE STUDIES

$0M01FY2000RRNIH

Washington University, Saint Louis MO

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Linked publications & trials

Abstract

A subset of homozygous PiZZ alpha1-AT-deficient individuals is more susceptible to liver injury by virtue of a second inherited traits, or facts which exaggerates the intracellular accumulation of mutant alpha1-AT, or exaggerates the cellular pathophysiologic consequences of mutant alpha1-AT accumulation. Identification of this trait or traits may allow predictive testing for susceptibility to liver disease as well as novel approaches for pharmacologic amelioration of the liver injury.

View original record on NIH RePORTER →