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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Hum Mol Genet
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Oxford University Press 2017
Gaiak:
Articles
Sarrera elektronikoa: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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