Article

Investigating the role of eukaryotic translation elongation factor eEF1A2 in autism, epilepsy and intellectual disability

2020-01-01

Abstract excerpt

Eukaryotic translation elongation factor eEF1A2 is responsible for delivering aminoacylated tRNAs to the ribosome during protein synthesis. Heterozygous de novo missense mutations in EEF1A2 have been identified in individuals with epilepsy, autism and intellectual disability. The primary aim of this thesis was to assess whether these mutations operated through a loss of function, gain of function or dominant negat...

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Literature Corpus work: f42d7edf-b5ee-54c6-aba9-5a15cad5127f
DOI: 10.7488/era/75

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