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Emphysema associated with complete absence of alpha 1- antitrypsin in serum and the homozygous inheritance [corrected] of a stop codon in an alpha 1-antitrypsin-coding exon.

Homozygous inheritance of the null bellingham alpha 1-antitrypsin (alpha 1AT) gene is associated with early-onset emphysema, resulting from the lack of alpha 1AT to protect the lung from neutrophil elastase. Cloning and sequencing of the null bellingham gene demonstrated that the promoter region, co...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Satoh, K, Nukiwa, T, Brantly, M, Garver, R I, Hofker, M, Courtney, M, Crystal, R G
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 1988
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1715304/
https://ncbi.nlm.nih.gov/pubmed/3257351
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