UBR5 Gene Mutation Is Associated with Familial Adult Myoclonic Epilepsy in a Japanese Family

The causal gene(s) for familial adult myoclonic epilepsy (FAME) remains undetermined. To identify it, an exome analysis was performed for the proband in a Japanese FAME family. Of the 383 missense/nonsense variants examined, only c.5720G>A mutation (p.Arg1907His) in the UBR5 gene was found in all...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Kato, Takeo, Tamiya, Gen, Koyama, Shingo, Nakamura, Tomohiro, Makino, Satoshi, Arawaka, Shigeki, Kawanami, Toru, Tooyama, Ikuo
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: International Scholarly Research Network 2012
Θέματα:
Research Article
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3458293/
https://ncbi.nlm.nih.gov/pubmed/23029623
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5402/2012/508308
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