Dysfunctional C1 inhibitor Ta: deletion of Lys-251 results in acquisition of an N-glycosylation site
about
Nonsense mutations affect C1 inhibitor messenger RNA levels in patients with type I hereditary angioneurotic edemaTransinhibition of C1 inhibitor synthesis in type I hereditary angioneurotic edema.Synthesis of C1 inhibitor in fibroblasts from patients with type I and type II hereditary angioneurotic edemaCrucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function.A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444-->Leu).A cluster of mutations within a short triplet repeat in the C1 inhibitor gene.A mutation unique in serine protease inhibitors (serpins) identified in a family with type II hereditary angioneurotic edema.Genetics of Hereditary Angioedema Revisited.HAE Pathophysiology and Underlying Mechanisms.Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.C1-inhibitor and its genetic alterations in hereditary angioneurotic edema.Intermittent C1-Inhibitor Deficiency Associated with Recessive Inheritance: Functional and Structural Insight.
P2860
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P2860
Dysfunctional C1 inhibitor Ta: deletion of Lys-251 results in acquisition of an N-glycosylation site
description
1990 nî lūn-bûn
@nan
1990 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1990年の論文
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1990年学术文章
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1990年学术文章
@zh-cn
1990年学术文章
@zh-hans
1990年学术文章
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1990年学术文章
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1990年學術文章
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name
Dysfunctional C1 inhibitor Ta: ...... ion of an N-glycosylation site
@ast
Dysfunctional C1 inhibitor Ta: ...... ion of an N-glycosylation site
@en
Dysfunctional C1 inhibitor Ta: ...... ion of an N-glycosylation site
@nl
type
label
Dysfunctional C1 inhibitor Ta: ...... ion of an N-glycosylation site
@ast
Dysfunctional C1 inhibitor Ta: ...... ion of an N-glycosylation site
@en
Dysfunctional C1 inhibitor Ta: ...... ion of an N-glycosylation site
@nl
prefLabel
Dysfunctional C1 inhibitor Ta: ...... ion of an N-glycosylation site
@ast
Dysfunctional C1 inhibitor Ta: ...... ion of an N-glycosylation site
@en
Dysfunctional C1 inhibitor Ta: ...... ion of an N-glycosylation site
@nl
P2093
P2860
P356
P1476
Dysfunctional C1 inhibitor Ta: ...... ion of an N-glycosylation site
@en
P2093
P2860
P304
P356
10.1073/PNAS.87.17.6786
P407
P577
1990-09-01T00:00:00Z