Article
A functional tetranucleotide (AAAT) polymorphism in an Alu element in the NF1 gene is associated with mental retardation.
Neuroscience letters - 17 Mar 2011
Védrine Sylviane Marouillat, Vourc'h Patrick, Tabagh Refaat, Mignon Laurence, Höfflin Saskya, Cherpi-Antar Catherine, Mbarek Olivier, Paubel Agathe, Moraine Claude, Raynaud Martine, Andres Christian R
Abstract excerpt
Mental retardation (MR) is frequent in neurofibromatosis type 1 (NF1). Allele 5 of a tetranucleotide polymorphism in an Alu element (GXAlu) localized in intron 27b of the NF1 gene has previously been associated with autism. We considered that the microsatellite GXAlu could also represent a risk factor in MR without autism. We developed a rapid method for genotyping by non-denaturing HPLC and assayed the allelic...
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