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...

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Autores principales: Satoh, K, Nukiwa, T, Brantly, M, Garver, R I, Hofker, M, Courtney, M, Crystal, R G
Formato: Artigo
Lenguaje:Inglês
Publicado: 1988
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1715304/
https://ncbi.nlm.nih.gov/pubmed/3257351
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