Article
Identification of rare noncoding sequence variants in gamma-aminobutyric acid A receptor, alpha 4 subunit in autism spectrum disorder.
Neurogenetics - 1 Jan 2018
Griswold Anthony J, Van Booven Derek, Cuccaro Michael L, Haines Jonathan L, Gilbert John R, Pericak-Vance Margaret A
Abstract excerpt
Alterations of the gamma-aminobutyric acid (GABA) signaling system has been strongly linked to the pathophysiology of autism spectrum disorder (ASD). Genetic associations of common variants in GABA receptor subunits, in particular GABRA4 on chromosome 4p12, with ASD have been replicated by several studies. Moreover, molecular investigations have identified altered transcriptional and translational levels of this...
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