(Q48102664)

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C1-inhibitor gene nucleotide insertion causes type II hereditary angio-oedema

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1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/8396558

C1-inhibitor gene nucleotide insertion causes type II hereditary angio-oedema (English)

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/8396558

author name string

Z Siddique

1

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/8396558

A R McPhaden

2

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/8396558

K Whaley

3

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/8396558

publication date

1 September 1993

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/8396558

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/8396558

92

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/8396558

2

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/8396558

189-190

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/8396558

C1 inhibitor and hereditary angioneurotic edema

1 reference

https://pubmed.ncbi.nlm.nih.gov/8396558

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a new P1 residue mutation (444Arg----Ser) in a dysfunctional C1 inhibitor protein contained in a type II hereditary angioedema plasma

1 reference

https://pubmed.ncbi.nlm.nih.gov/8396558

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Substrate properties of C1 inhibitor Ma (alanine 434----glutamic acid). Genetic and structural evidence suggesting that the P12-region contains critical determinants of serine protease inhibitor/substrate status

1 reference

https://pubmed.ncbi.nlm.nih.gov/8396558

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8396558

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary angioedema: an appraisal of 104 cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/8396558

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8396558

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis and prenatal diagnosis of beta-thalassemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/8396558

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA sequence analysis with a modified bacteriophage T7 DNA polymerase

1 reference

https://pubmed.ncbi.nlm.nih.gov/8396558

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CpG mutations in the reactive site of human C1 inhibitor

1 reference

https://pubmed.ncbi.nlm.nih.gov/8396558

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8396558

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complete nucleotide sequence of the gene for human C1 inhibitor with an unusually high density of Alu elements

1 reference

https://pubmed.ncbi.nlm.nih.gov/8396558

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The stoichiometric measurement of the serum inhibition of the first component of complement by the inhibition of immune hemolysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8396558

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00219690

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/8396558

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

8 February 2018

http://europepmc.org/abstract/MED/8396558

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