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Characterisation of CDKL5 Transcript Isoforms in Human and Mouse
Mutations in the X-linked Cyclin-Dependent Kinase-Like 5 gene (CDKL5) cause early onset infantile spasms and subsequent severe developmental delay in affected children. Deleterious mutations have been reported to occur throughout the CDKL5 coding region. Several studies point to a complex CDKL5 gene...
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| Publicado no: | PLoS One |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Public Library of Science
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4912119/ https://ncbi.nlm.nih.gov/pubmed/27315173 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0157758 |
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