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pro vyhledávání: '"H P Stecklein"'
Autor:
R.C. Strunk, John J. Bissler, K. S. Aulak, A E Davis rd, Richard B. Parad, Eric Eldering, F S Rosen, C E Hack, H P Stecklein, J Kramer
Publikováno v:
Nature genetics, 1(5), 354-358. Nature Publishing Group
Heterozygosity for a mutant dysfunctional C1 inhibitor protein, a member of the serine proteinase inhibitor (serpin) superfamily, results in type II hereditary angioneurotic oedema. We identified a "hinge" region mutation in C1 inhibitor with a Val t