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The significance of the F variant of alpha-1-antitrypsin and unique case report of a PiFF homozygote

BACKGROUND: Inheritance of the F variant of alpha-1-antitrypsin is associated with normal circulating protein levels, but it is believed to be dysfunctional in its ability to inhibit neutrophil elastase and therefore has been implicated as a susceptibility factor for the development of emphysema. In...

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Bibliografische gegevens
Hoofdauteurs: Sinden, Nicola Jane, Koura, Firas, Stockley, Robert Andrew
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2014
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4131482/
https://ncbi.nlm.nih.gov/pubmed/25098359
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2466-14-132
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