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Article

Molecular defects in hereditary angioneurotic edema.

Proceedings of the Association of American Physicians - 1 Mar 1997

Bissler J J, Aulak K S, Donaldson V H, Rosen F S, Cicardi M, Harrison R A, Davis A E

Abstract excerpt

Thirty-eight previously unreported, unrelated patients with hereditary angioneurotic edema were studied, and each was found to have a single mutation in the C1 inhibitor gene. On the basis of serine protease inhibitor crystal structure, these and published mutations affect critical domains in the reactive center loop, alpha-helices A, B, C, E, and F, and beta-sheets A and C. Almost all mutations, other than in...

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PMID: 9069585

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