Characterisation of a type II functionally-deficient variant of alpha-1-antitrypsin discovered in the general population
M. Laffranchi, E. L. K. Elliston, F. Gangemi, R. Berardelli, D. A. Lomas, J. A. Irving, A. Fra
The paper identifies and characterizes a novel alpha-1-antitrypsin variant, Gly349Arg, which is functionally deficient but not secretory impaired, highlighting the need for accurate genotyping in AATD patients.
bioRxiv · Oct 24, 2018Biochemistry