(Q54657692)

2 June 2018

title

Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort. (English)

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2 June 2018

main subject

hereditary angioedema

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inferred from title

author

Margarita López-Trascasa

6

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2 June 2018

author name string

Olga Roche

1

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2 June 2018

Alvaro Blanch

2

1 reference

2 June 2018

Christiane Duponchel

3

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2 June 2018

Gumersindo Fontán

4

1 reference

2 June 2018

Mario Tosi

5

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2 June 2018

publication date

1 August 2005

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2 June 2018

published in

Human Mutation

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2 June 2018

volume

26

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2 June 2018

issue

2

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2 June 2018

page(s)

135-144

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2 June 2018

Proteolytic activities of two types of mannose-binding lectin-associated serine protease

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20197

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.20197

7 January 2021

Type I C1 inhibitor deficiency with a small messenger RNA resulting from deletion of one exon

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20197

7 January 2021

Recombinations between Alu repeat sequences that result in partial deletions within the C1 inhibitor gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20197

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.20197

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20197

7 January 2021

Structural and functional aspects of C1-inhibitor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20197

7 January 2021

Listening to silence and understanding nonsense: exonic mutations that affect splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20197

7 January 2021

ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20197

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.20197

7 January 2021

Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20197

7 January 2021

The effect of sequence variations within the coding region of the C1 inhibitor gene on disease expression and protein function in families with hereditary angio-oedema

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20197

7 January 2021

Rapid detection by fluorescent multiplex PCR of exon deletions and duplications in the C1 inhibitor gene of hereditary angioedema patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20197

7 January 2021

Predictive identification of exonic splicing enhancers in human genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20197

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20197

7 January 2021

A novel donor splice site mutation in the C1 inhibitor gene of a patient with type I hereditary angioneurotic edema

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20197

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.20197

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20197

7 January 2021

HEREDITARY ANGIONEUROTIC EDEMA: TWO GENETIC VARIANTS.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20197

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.20197

7 January 2021

Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20197

7 January 2021

Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20197

7 January 2021

Molecular genetics of C1 inhibitor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20197

7 January 2021

The association of nonsense codons with exon skipping

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20197

7 January 2021

Conformational changes in serpins: I. The native and cleaved conformations of alpha(1)-antitrypsin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20197

7 January 2021

Detection of C1 inhibitor mutations in patients with hereditary angioedema.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20197

7 January 2021

Identifiers

DOI

10.1002/HUMU.20197

1 reference

2 June 2018

1 reference

2 June 2018