Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death

Eukaryotic elongation factor 1A (EEF1A), is encoded by two distinct isoforms, EEF1A1 and EEF1A2; whereas EEF1A1 is expressed almost ubiquitously, EEF1A2 expression is limited such that it is only detectable in skeletal muscle, heart, brain and spinal cord. Currently, the role of EEF1A2 in normal car...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Cao, Siqi, Smith, Laura L., Padilla-Lopez, Sergio R., Guida, Brandon S., Blume, Elizabeth, Shi, Jiahai, Morton, Sarah U., Brownstein, Catherine A., Beggs, Alan H., Kruer, Michael C., Agrawal, Pankaj B.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2017
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5886049/
https://ncbi.nlm.nih.gov/pubmed/28911200
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx239
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