Article
High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients.
Neurobiology of aging - 1 Aug 2012
Mok Kin Y, Koutsis Georgios, Schottlaender Lucia V, Polke James, Panas Marios, Houlden Henry
Abstract excerpt
An intronic expansion of a hexanucleotide GGGGCC repeat in the C9ORF72 gene has recently been shown to be an important cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in familial and sporadic cases. The frequency has only been defined in a small number of populations where the highest sporadic rate was identified in Finland (21.1%) and the lowest in mainland Italy (4.1%). We...
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