CpG mutations in the reactive site of human C1 inhibitor
about
Dysfunctional C1 inhibitor Ta: deletion of Lys-251 results in acquisition of an N-glycosylation siteClusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangementsType II hereditary angioneurotic edema that may result from a single nucleotide change in the codon for alanine-436 in the C1 inhibitor geneNonsense mutations affect C1 inhibitor messenger RNA levels in patients with type I hereditary angioneurotic edemaStructural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndromeCrucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function.Plasma levels of C1- inhibitor complexes and cleaved C1- inhibitor in patients with hereditary angioneurotic edema.Hereditary angioedema nationwide study in Slovenia reveals four novel mutations in SERPING1 geneA Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1.Hereditary Angioedema Due to C1 Inhibitor Deficiency in Serbia: Two Novel Mutations and Evidence of Genotype-Phenotype AssociationA mutation unique in serine protease inhibitors (serpins) identified in a family with type II hereditary angioneurotic edema.New restriction endonuclease CviRI cleaves DNA at TG/CA sequencesRecombinational biases in the rearranged C1-inhibitor genes of hereditary angioedema patients.Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein.Mutational spectrum of the SERPING1 gene in Swiss patients with hereditary angioedema.
P2860
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P2860
CpG mutations in the reactive site of human C1 inhibitor
description
1989 nî lūn-bûn
@nan
1989 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1989 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1989年の論文
@ja
1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
name
CpG mutations in the reactive site of human C1 inhibitor
@ast
CpG mutations in the reactive site of human C1 inhibitor
@en
CpG mutations in the reactive site of human C1 inhibitor
@en-gb
CpG mutations in the reactive site of human C1 inhibitor
@nl
type
label
CpG mutations in the reactive site of human C1 inhibitor
@ast
CpG mutations in the reactive site of human C1 inhibitor
@en
CpG mutations in the reactive site of human C1 inhibitor
@en-gb
CpG mutations in the reactive site of human C1 inhibitor
@nl
prefLabel
CpG mutations in the reactive site of human C1 inhibitor
@ast
CpG mutations in the reactive site of human C1 inhibitor
@en
CpG mutations in the reactive site of human C1 inhibitor
@en-gb
CpG mutations in the reactive site of human C1 inhibitor
@nl
P2093
P1476
CpG mutations in the reactive site of human C1 inhibitor
@en
P2093
Donaldson VH
Radziejewska E
Silbermann JA
P304
P407
P577
1989-02-01T00:00:00Z