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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.

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Burn, John, Dunger, David, Lake, Brian
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 1982
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1627633/
https://ncbi.nlm.nih.gov/pubmed/6979314
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