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Dysfunctional C1 inhibitor Ta: deletion of Lys-251 results in acquisition of an N-glycosylation site.

Hereditary angioneurotic edema is inherited as an autosomal dominant disorder and is characterized by potentially life-threatening episodic angioedema. In type II hereditary angioneurotic edema, a dysfunctional C1 inhibitor molecule is present together with low levels of normal C1 inhibitor. About 7...

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Pubblicato in:Proc Natl Acad Sci U S A
Autori principali: Parad, R B, Kramer, J, Strunk, R C, Rosen, F S, Davis, A E
Natura: Artigo
Lingua:Inglês
Pubblicazione: National Academy of Sciences 1990
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Accesso online:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC54622/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2118657/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.87.17.6786
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