The expansion of unstable genomic short tandem repeats (STRs) causes more than 30 Mendelian human disorders 5. An extended GGGGCC repeat (G 4 C 2) n, within the C9orf72 gene is the most frequent ...
Expanded repetitive sequences are infamous for causing inherited disease. Think poly-Q tracts that cause Huntington’s or the C9orf72 hexanucleotide run-ons that trigger ALS/FTD. However, given people ...
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