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Article

Alpha1-antitrypsin deficiency in childhood.

Seminars in liver disease - 1 Aug 2007

Teckman Jeffrey H

Abstract excerpt

Alpha (1)-antitrypsin deficiency is a common genetic disease in which individuals homozygous for the mutant Z allele are at risk for the development of liver disease and emphysema. The mutant Z protein product is synthesized in hepatocytes but then accumulates intracellularly rather then being appropriately secreted. The effects of the intracellular accumulation of the mutant Z protein in the liver include the...

Topics

Child
Humans
Liver Diseases
Phenotype
alpha 1-Antitrypsin Deficiency

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 17682974
DOI: 10.1055/s-2007-985072

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