Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency-Reference-Cited by-同舟云学术

Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency

Published:2018-08 Issue: Volume:667 Page:76-82
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Loules Gedeon,Zamanakou Maria,Parsopoulou Faidra,Vatsiou Sofia,Psarros Fotis,Csuka Dorottya^ORCID,Porebski Grzegorz,Obtulowicz Krystyna,Valerieva Anna,Staevska Maria,López-Lera Alberto,López-Trascasa Margarita,Moldovan Dumitru,Magerl Markus,Maurer Marcus,Speletas Matthaios,Farkas Henriette,Germenis Anastasios E.^ORCID

Funder

Shire International GmbH

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference40 articles.

1. Hereditary angioedema due to C1 inhibitor deficiency in Serbia: Two novel mutations and evidence of genotype-phenotype association;Andrejevic;PLoS One,2015

2. Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations;Bafunno;Ann. Hum. Genet.,2014

3. Detection of C1 inhibitor (SERPING1/C1NH) mutations in exon 8 in patients with hereditary angioedema: evidence for 10 novel mutations;Blanch;Hum. Mutat.,2002

4. A review of the reported defects in the human C1 esterase inhibitor gene producing hereditary angioedema including four new mutations;Bowen;Clin. Immunol.,2001

5. New mutations in SERPING1 gene of Brazilian patients with hereditary angioedema;Cagini;Biol. Chem.,2016

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1. Hereditary or acquired? Comprehensive genetic testing assists in stratifying angioedema patients;Allergy, Asthma & Clinical Immunology;2024-03-30

2. Complex analysis of the national Hereditary angioedema cohort in Slovakia – Identification of 12 novel variants in SERPING1 gene;World Allergy Organization Journal;2024-03

3. Application of a dried blood spot based proteomic and genetic assay for diagnosing hereditary angioedema;Clinical and Translational Allergy;2023-11

4. Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort;Journal of Clinical Immunology;2023-08-25

5. Hereditary Angioedema;Immunology and Allergy Clinics of North America;2023-08