CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

Background: Rett syndrome is a severe neurodevelopmental disorder, almost exclusively affecting females and characterised by a wide spectrum of clinical manifestations. Both the classic form and preserved speech variant of Rett syndrome are due to mutations in the MECP2 gene. Several other variants...

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Kaydedildi:
Detaylı Bibliyografya
Asıl Yazarlar: Scala, E, Ariani, F, Mari, F, Caselli, R, Pescucci, C, Longo, I, Meloni, I, Giachino, D, Bruttini, M, Hayek, G, Zappella, M, Renieri, A
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BMJ Group 2005
Konular:
Original Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735977/
https://ncbi.nlm.nih.gov/pubmed/15689447
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.026237
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