Wordt geladen...
An intronic mutation in Chd7 creates a cryptic splice site, causing aberrant splicing in a mouse model of CHARGE syndrome
Alternate splicing is a critical regulator of gene expression in eukaryotes, however genetic mutations can cause erroneous splicing and disease. Most recorded splicing disorders are caused by mutations of splice donor/acceptor sites, however intronic mutations can affect splicing. Clinical exome ana...
Bewaard in:
| Gepubliceerd in: | Sci Rep |
|---|---|
| Hoofdauteurs: | , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Nature Publishing Group UK
2018
|
| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5882948/ https://ncbi.nlm.nih.gov/pubmed/29615807 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-23856-8 |
| Tags: |
Voeg label toe
Geen labels, Wees de eerste die dit record labelt!
|