SERPING1 exon 3 splicing variants using alternative acceptor splice sites-Reference-Cited by-同舟云学术

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SERPING1 exon 3 splicing variants using alternative acceptor splice sites

Published:2019-03 Issue: Volume:107 Page:91-96
ISSN:0161-5890
Container-title:Molecular Immunology
language:en
Short-container-title:Molecular Immunology

Author:

Grymová Tereza^ORCID,Grodecká Lucie,Souček Přemysl,Freiberger Tomáš

Funder

Ministry of Health of the Czech Republic

Centre for Cardiovascular Surgery and Transplantation

Ministry of Education, Youth and Sport of the Czech Republic

LC-MS/MS

Publisher

Elsevier BV

Subject

Molecular Biology,Immunology

Reference50 articles.

1. Hereditary angioedema due to C1 inhibitor deficiency in Serbia: two novel mutations and evidence of genotype-phenotype association;Andrejević;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. mRNA quality control: an ancient machinery recognizes and degrades mRNAs with nonsense codons;Behm-Ansmant;FEBS Lett.,2007

4. C1 inhibitor serpin domain structure reveals the likely mechanism of heparin potentiation and conformational disease;Beinrohr;J. Biol. Chem.,2007

5. Human C1 inhibitor: primary structure, cDNA cloning, and chromosomal localization;Bock;Biochemistry,1986

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1. SPLICER: A Highly Efficient Base Editing Toolbox That EnablesIn VivoTherapeutic Exon Skipping;2024-04-02

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. Functional Characterization of Two Novel Intron 4 SERPING1 Gene Splice Site Pathogenic Variants in Families with Hereditary Angioedema;Biomedicines;2023-12-28

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

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