Characterisation of CDKL5 Transcript Isoforms in Human and Mouse.

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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Bibliographic Details
Main Authors: Ralph D Hector, Owen Dando, Nicoletta Landsberger, Charlotte Kilstrup-Nielsen, Peter C Kind, Mark E S Bailey, Stuart R Cobb
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2016-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4912119?pdf=render

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http://europepmc.org/articles/PMC4912119?pdf=render

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