Article
Mutation screening of the neurexin 1 gene in thai patients with intellectual disability and autism spectrum disorder.
Genetic testing and molecular biomarkers - 1 Jul 2014
Yangngam Supaporn, Plong-On Oradawan, Sripo Thanya, Roongpraiwan Rawiwan, Hansakunachai Tippawan, Wirojanan Juthamas, Sombuntham Tasnawat, Ruangdaraganon Nichara, Limprasert Pornprot
Abstract excerpt
AIM: Neurexin 1 has two major protein isoforms using alternative promoters, coding for the alpha-neurexin 1 (α-NRXN1) and beta-neurexin 1 (β-NRXN1) genes. This study is to explore the possibility that variants of the NRXN1 gene predispose to intellectual disability (ID) and autism spectrum disorder (ASD). METHODS: The coding regions in 24 exons and exon-intron boundaries of the NRXN1 gene were investigated in 115...
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