(Q24559923)

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Type II hereditary angioneurotic edema that may result from a single nucleotide change in the codon for alanine-436 in the C1 inhibitor gene

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Type II hereditary angioneurotic edema that may result from a single nucleotide change in the codon for alanine-436 in the C1 inhibitor gene (English)

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author name string

N J Levy

1

author given names

N J

author last names

Levy

1 reference

PubMed publication ID

19 October 2023

N Ramesh

2

author given names

N

author last names

Ramesh

1 reference

PubMed publication ID

19 October 2023

M Cicardi

3

author given names

M

author last names

Cicardi

1 reference

PubMed publication ID

19 October 2023

R A Harrison

4

author given names

R A

author last names

Harrison

1 reference

PubMed publication ID

19 October 2023

A E Davis

5

author given names

A E 3rd

author last names

Davis

1 reference

PubMed publication ID

19 October 2023

language of work or name

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publication date

January 1990

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Proceedings of the National Academy of Sciences of the United States of America

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87

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1

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265-8

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CpG mutations in the reactive site of human C1 inhibitor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53243

24 March 2017

DNA sequencing with chain-terminating inhibitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53243

24 March 2017

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53243

24 March 2017

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53243

24 March 2017

Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53243

24 March 2017

The CpG dinucleotide and human genetic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53243

24 March 2017

The inhibition of plasmin, plasma kallikrein, plasma permeability factor, and the C'1r subcomponent of the first component of complement by serum C'1 esterase inhibitor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53243

24 March 2017

Human C1 inhibitor: primary structure, cDNA cloning, and chromosomal localization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53243

24 March 2017

Efficient transfer of large DNA fragments from agarose gels to diazobenzyloxymethyl-paper and rapid hybridization by using dextran sulfate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53243

7 April 2017

A BIOCHEMICAL ABNORMALITY IN HEREDIATRY ANGIONEUROTIC EDEMA: ABSENCE OF SERUM INHIBITOR OF C' 1-ESTERASE.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53243

27 September 2017

Some properties of an esterase derived from preparations of the first component of complement

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53243

27 September 2017

Human alpha 1-proteinase inhibitor. Crystal structure analysis of two crystal modifications, molecular model and preliminary analysis of the implications for function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53243

27 September 2017

Genetically determined heterogeneity of the C1 esterase inhibitor in patients with hereditary angioneurotic edema

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53243

27 September 2017

Variability in purified dysfunctional C1(-)-inhibitor proteins from patients with hereditary angioneurotic edema. Functional and analytical gel studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53243

27 September 2017

Plakalbumin, alpha 1-antitrypsin, antithrombin and the mechanism of inflammatory thrombosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53243

27 September 2017

[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53243

27 September 2017

C1 inhibitor and hereditary angioneurotic edema

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53243

27 September 2017

Genomic and cDNA cloning of the human C1 inhibitor. Intron-exon junctions and comparison with other serpins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53243

27 September 2017

A new member of the plasma protease inhibitor gene family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53243

27 September 2017

Restriction fragment length polymorphism of the C1 inhibitor gene in hereditary angioneurotic edema

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53243

27 September 2017

Response of variant hereditary angioedema phenotypes to danazol therapy. Genetic implications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53243

27 September 2017

Molecular basis of base substitution hotspots in Escherichia coli

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53243

27 September 2017

Studies on human plasma C1 inactivator-enzyme interactions. I. Mechanisms of interaction with C1s, plasmin, and trypsin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53243

27 September 2017

Interaction of plasma kallikrein with the C1 inhibitor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53243

30 May 2018

Antithrombin-III Denver, a reactive site variant

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53243

30 May 2018

Plasma serine proteinase inhibitors (serpins) exhibit major conformational changes and a large increase in conformational stability upon cleavage at their reactive sites.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53243

30 May 2018

Antithrombin III Utah: proline-407 to leucine mutation in a highly conserved region near the inhibitor reactive site

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53243

30 May 2018

Dysfunctional C1-inhibitor(At), isolated from a type II hereditary-angio-oedema plasma, contains a P1 'reactive centre' (Arg444----His) mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53243

30 May 2018

Alpha 2-antiplasmin Enschede: alanine insertion and abolition of plasmin inhibitory activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53243

30 May 2018

The structural basis for neutrophil inactivation of C1 inhibitor.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=53243

30 May 2018

Inhibition of activated Hageman factor and activated plasma thromboplastin antecedent by purified serum C1 inactivator

1 reference

https://pubmed.ncbi.nlm.nih.gov/2296585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heat- and alkali-induced deamination of 5-methylcytosine and cytosine residues in DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/2296585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA polymorphism of the C4 genes. A new marker for analysis of the major histocompatibility complex

1 reference

https://pubmed.ncbi.nlm.nih.gov/2296585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Altered C1 inhibitor genes in type I hereditary angioedema

1 reference

https://pubmed.ncbi.nlm.nih.gov/2296585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The serpins: evolution and adaptation in a family of protease inhibitors

1 reference

https://pubmed.ncbi.nlm.nih.gov/2296585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Antithrombin-III-Hamilton: a gene with a point mutation (guanine to adenine) in codon 382 causing impaired serine protease reactivity

1 reference

https://pubmed.ncbi.nlm.nih.gov/2296585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary angioneurotic edema. II. Deficiency of inhibitor for serum globulin permeability factor and/or plasma kallikrein

1 reference

https://pubmed.ncbi.nlm.nih.gov/2296585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1073/PNAS.87.1.265

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1990PNAS...87..265L

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release_lowisoowzbhmld53crkrr2gh2i

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PMC publication ID

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PubMed publication ID

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ResearchGate publication ID

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