Article
An investigation of ribosomal protein L10 gene in autism spectrum disorders.
BMC medical genetics - 23 Jan 2009
Gong Xiaohong, Delorme Richard, Fauchereau Fabien, Durand Christelle M, Chaste Pauline, Betancur Catalina, Goubran-Botros Hany, Nygren Gudrun, Anckarsäter Henrik, Rastam Maria, Gillberg I Carina, Kopp Svenny, Mouren-Simeoni Marie-Christine, Gillberg Christopher, Leboyer Marion, Bourgeron Thomas
Abstract excerpt
BACKGROUND: Autism spectrum disorders (ASD) are severe neurodevelopmental disorders with the male:female ratio of 4:1, implying the contribution of X chromosome genetic factors to the susceptibility of ASD. The ribosomal protein L10 (RPL10) gene, located on chromosome Xq28, codes for a key protein in assembling large ribosomal subunit and protein synthesis. Two non-synonymous mutations of RPL10, L206M and H213Q,...
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