CDKL5 variants: Improving our understanding of a rare neurologic disorder

OBJECTIVE: To provide new insights into the interpretation of genetic variants in a rare neurologic disorder, CDKL5 deficiency, in the contexts of population sequencing data and an updated characterization of the CDKL5 gene. METHODS: We analyzed all known potentially pathogenic CDKL5 variants by com...

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Detaylı Bibliyografya
Yayımlandı:Neurol Genet
Asıl Yazarlar: Hector, Ralph D., Kalscheuer, Vera M., Hennig, Friederike, Leonard, Helen, Downs, Jenny, Clarke, Angus, Benke, Tim A., Armstrong, Judith, Pineda, Mercedes, Bailey, Mark E.S., Cobb, Stuart R.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Wolters Kluwer 2017
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Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5732004/
https://ncbi.nlm.nih.gov/pubmed/29264392
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000200
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