Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sites-Reference-Cited by-同舟云学术

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Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sites

Published:2009-09 Issue:9 Volume:30 Page:1329-1339
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

GuÃ©dard-MÃ©reuze Sandie Le,VachÃ© Christel,Molinari Nicolas,Vaudaine Julie,Claustres Mireille,Roux Anne-FranÃ§oise,Tuffery-Giraud Sylvie

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21070/fullpdf

Reference85 articles.

1. Activation of a cryptic 5â² splice site by U1 snRNA;Alvarez;RNA,2001

2. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes;Annunen;Am J Hum Genet,1999

3. Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene;Aretz;Hum Mutat,2004

4. Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients;Ars;J Med Genet,2003

5. Severe factor V deficiency: exon skipping in the factor V gene causing a partial deletion of the C1 domain;Asselta;J Thromb Haemost,2003

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

2. Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes;Scientific Reports;2022-01-07

3. A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus;Molecular Genetics & Genomic Medicine;2021-10-21

4. A Reporter Based Cellular Assay for Monitoring Splicing Efficiency;Journal of Visualized Experiments;2021-09-15

5. The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene;PLOS ONE;2020-08-19

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