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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:PLoS One
Päätekijät: Hector, Ralph D., Dando, Owen, Landsberger, Nicoletta, Kilstrup-Nielsen, Charlotte, Kind, Peter C., Bailey, Mark E. S., Cobb, Stuart R.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Public Library of Science 2016
Aiheet:
Research Article
Linkit: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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