(Q40463262)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15580551%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

title

HAEdb: a novel interactive, locus-specific mutation database for the C1 inhibitor gene (English)

1 reference

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5 January 2020

1

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5 January 2020

Henriette Farkas

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15580551%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

author name string

Tamás Hegedüs

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15580551%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Melinda Nagy

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15580551%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Attila Tordai

5

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5 January 2020

publication date

1 January 2005

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5 January 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15580551%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

volume

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15580551%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

issue

1

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5 January 2020

page(s)

1-5

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A review of the reported defects in the human C1 esterase inhibitor gene producing hereditary angioedema including four new mutations.

5 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20112

Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20112

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20112

Nomenclature for the description of human sequence variations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20112

The challenge of documenting mutation across the genome: the human genome variation society approach

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20112

Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20112

Hereditary and acquired C1-inhibitor deficiency: biological and clinical characteristics in 235 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20112

7 January 2021

Detection of C1 inhibitor (SERPING1/C1NH) mutations in exon 8 in patients with hereditary angioedema: evidence for 10 novel mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20112

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20112

7 January 2021

Structural and functional aspects of C1-inhibitor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20112

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20112

7 January 2021

Human inhibitor of the first component of complement, C1: characterization of cDNA clones and localization of the gene to chromosome 11

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20112

7 January 2021

Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20112

7 January 2021

Frequent de novo mutations and exon deletions in the C1inhibitor gene of patients with angioedema

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20112

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20112

7 January 2021

Hereditary angioedema with a de novo mutation of exon 8 in the C1 inhibitor gene showing recurrent edema of the hands around the peripheral joints: importance for the differential diagnosis of joint swelling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20112

7 January 2021

Molecular genetics of C1 inhibitor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20112

7 January 2021

Identifiers

DOI

10.1002/HUMU.20112

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15580551%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

1 reference