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fragile X syndrome FRAXA site
Fragile site results from trinucleotide repeat expansion from <50 to as many as several thousand CGG repeats in 5'untranslated region of FMR-1 gene.
Database Correlations
OMIM 300624
References
- Ross CA, McInnis MG, Margolis RL, Li SH.
Genes with triplet repeats: candidate mediators of
neuropsychiatric disorders.
Trends Neurosci. 1993 Jul;16(7):254-60. Review.
PMID: 7689767