Dominant-negative SERPING1 variants cause intracellular retention of C1 inhibitor in hereditary angioedema.
Haslund D, Ryø LB, Seidelin Majidi S, Rose I, Skipper KA, Fryland T, Bohn AB, Koch C, Thomsen MK, Palarasah Y, Corydon TJ, Bygum A, Nejsum LN, Mikkelsen JG.
Haslund D, et al. Among authors: corydon tj.
J Clin Invest. 2019 Jan 2;129(1):388-405. doi: 10.1172/JCI98869. Epub 2018 Dec 10.
J Clin Invest. 2019.
PMID: 30398465
Free PMC article.