Researchers have identified a repeat expansion in C9ORF72 as the genetic defect on chromosome 9p21 responsible for frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS).
Renton et al. A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
DeJesus-Hernandez et al. Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
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