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Liver damage in a neonate with alpha-1-antitrypsin deficiency due to phenotype PiZ null (Z(-))

An infant with neonatal liver damage had α-1-antitrypsin deficiency, having inherited the Z allele from the father and the rare null allele from the mother. This indicates that while a lack of serum antiprotease predisposes to early liver disease, homozygosity for the Z allele is not essential.

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Bibliographic Details
Main Authors: Burn, John, Dunger, David, Lake, Brian
Format: Artigo
Language:Inglês
Published: 1982
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1627633/
https://ncbi.nlm.nih.gov/pubmed/6979314
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