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...

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Detalles Bibliográficos
Autores principales: Ichisima, Jose, Suzuki, Naoya M., Samata, Bumpei, Awaya, Tomonari, Takahashi, Jun, Hagiwara, Masatoshi, Nakahata, Tatsutoshi, Saito, Megumu K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Singapore 2019
Materias:
Article
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

Internet

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

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