Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability

Protein translation is an essential cellular process initiated by the association of a methionyl–tRNA with the translation initiation factor eIF2. The Met-tRNA/eIF2 complex then associates with the small ribosomal subunit, other translation factors and mRNA, which together comprise the translational...

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Vydáno v:Hum Mol Genet
Hlavní autoři: Kernohan, Kristin D., Tétreault, Martine, Liwak-Muir, Urszula, Geraghty, Michael T., Qin, Wen, Venkateswaran, Sunita, Davila, Jorge, Holcik, Martin, Majewski, Jacek, Richer, Julie, Boycott, Kym M.
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2015
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4614701/
https://ncbi.nlm.nih.gov/pubmed/26307080
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv337
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