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Erschienen in: Acta Neurologica Belgica 2/2020

19.07.2017 | Letter to the Editor

TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16

verfasst von: Michele Salemi, Francesco Cali’, Mariaconcetta Giambirtone, Maurizio Elia, Corrado Romano

Erschienen in: Acta Neurologica Belgica | Ausgabe 2/2020

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Excerpt

Dear Editor, …
Literatur
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Zurück zum Zitat Guven A, Tolun A (2013) TBC1D24 truncating mutation resulting in severe neurodegeneration. J Med Genet 50:199–202CrossRef Guven A, Tolun A (2013) TBC1D24 truncating mutation resulting in severe neurodegeneration. J Med Genet 50:199–202CrossRef
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Zurück zum Zitat Livak KJ, Schmittgen TD (2001) Analysis of relative gene expression data using real-time quantitative pcr and the 22ddct method. Methods 25:402–408CrossRef Livak KJ, Schmittgen TD (2001) Analysis of relative gene expression data using real-time quantitative pcr and the 22ddct method. Methods 25:402–408CrossRef
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Zurück zum Zitat Lozano R, Herman K, Rothfuss M, Rieger H, Bayrak-Toydemir P, Aprile D, Fruscione F, Zara F, Fassio A (2016) Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations. Am J Med Genet A 170:3207–3214CrossRef Lozano R, Herman K, Rothfuss M, Rieger H, Bayrak-Toydemir P, Aprile D, Fruscione F, Zara F, Fassio A (2016) Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations. Am J Med Genet A 170:3207–3214CrossRef
Metadaten
Titel
TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16
verfasst von
Michele Salemi
Francesco Cali’
Mariaconcetta Giambirtone
Maurizio Elia
Corrado Romano
Publikationsdatum
19.07.2017
Verlag
Springer International Publishing
Erschienen in
Acta Neurologica Belgica / Ausgabe 2/2020
Print ISSN: 0300-9009
Elektronische ISSN: 2240-2993
DOI
https://doi.org/10.1007/s13760-017-0818-3

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