Article
Characterisation of CDKL5 Transcript Isoforms in Human and Mouse.
PloS one - 1 Jan 2016
Hector Ralph D, Dando Owen, Landsberger Nicoletta, Kilstrup-Nielsen Charlotte, Kind Peter C, Bailey Mark E S, Cobb Stuart R
Abstract excerpt
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 structure in terms of exon usage and transcript expression. Improvements in molecular diagnosis and more extensive...
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