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Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy

The cyclin-dependent kinase-like 5 gene (CDKL5) is recognized as one of the genes responsible for epileptic encephalopathy. We identified CDKL5 mutations in five Japanese patients (one male and four female) with epileptic encephalopathy. Although all mutations were of de novo origin, they were locat...

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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Yamamoto, Toshiyuki, Shimojima, Keiko, Kimura, Nobusuke, Mogami, Yukiko, Usui, Daisuke, Takayama, Rumiko, Ikeda, Hiroko, Imai, Katsumi
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4785533/
https://ncbi.nlm.nih.gov/pubmed/27081548
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.42
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