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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Detalles Bibliográficos
Autores principales: Hector, Ralph D., Dando, Owen, Landsberger, Nicoletta, Kilstrup-Nielsen, Charlotte, Kind, Peter C., Bailey, Mark E. S., Cobb, Stuart R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4912119/
https://www.ncbi.nlm.nih.gov/pubmed/27315173
http://dx.doi.org/10.1371/journal.pone.0157758

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