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Verification and rectification of cell type-specific splicing of a Seckel syndrome-associated ATR mutation using iPS cell model
Seckel syndrome (SS) is a rare spectrum of congenital severe microcephaly and dwarfism. One SS-causative gene is Ataxia Telangiectasia and Rad3-Related Protein (ATR), and ATR (c.2101 A>G) mutation causes skipping of exon 9, resulting in a hypomorphic ATR defect. This mutation is considered the ca...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer Singapore
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8075875/ https://www.ncbi.nlm.nih.gov/pubmed/30846821 http://dx.doi.org/10.1038/s10038-019-0574-8 |