Article
The significance of the F variant of alpha-1-antitrypsin and unique case report of a PiFF homozygote.
BMC pulmonary medicine - 7 Aug 2014
Sinden Nicola Jane, Koura Firas, Stockley Robert Andrew
Abstract excerpt
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 this study, its functional characteristics were determined following the identification of a unique patient with...
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