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Type: Journal article
Title: FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations
Author: Gecz, J.
Citation: Journal of Medical Genetics, 2000; 37(10):782-784
Publisher: British Med Journal Publ Group
Issue Date: 2000
ISSN: 0022-2593
Abstract: We have identified a novel gene, FMR3, originating from the FRAXE CpG island. The FMR3 gene is transcribed from the opposite strand to the FMR2 gene. Analogous to the silencing of the FMR1 and FMR2 genes, FMR3 transcription is extinguished by FRAXE full mutation. Although the role of FMR3 in FRAXE associated mild to borderline mental retardation is not yet clear, lack of expression of FMR3 in FRAXE full mutation males means that the FMR3 gene is potentially involved.
Keywords: Central Nervous System; X Chromosome; Fibroblasts; Humans; Fragile X Syndrome; Proteins; Trans-Activators; Nuclear Proteins; RNA, Messenger; RNA, Untranslated; Reverse Transcriptase Polymerase Chain Reaction; Gene Silencing; Gene Deletion; Base Sequence; CpG Islands; Trinucleotide Repeats; Phenotype; Mutation; Open Reading Frames; Introns; Exons; Expressed Sequence Tags; Molecular Sequence Data; Male; Genetic Linkage; Intellectual Disability
Description: Copyright © 2000 by the BMJ Publishing Group Ltd.
RMID: 0001000257
DOI: 10.1136/jmg.37.10.782
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Appears in Collections:Paediatrics publications

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