Article
A 50 bp deletion in the SOD1 promoter lowers enzyme expression but is not associated with ALS in Sweden.
Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Jan 2000
Ingre Caroline, Wuolikainen Anna, Marklund Stefan L, Birve Anna, Press Rayomand, Andersen Peter M
Abstract excerpt
Mutations in the superoxide dismutase (SOD1) gene have been linked to amyotrophic lateral sclerosis (ALS). A 50 base pair (bp) deletion of SOD1 has been suggested to reduce transcription and to be associated with later disease onset in ALS. This study was aimed to reveal if the 50 bp deletion influenced SOD1 enzymatic activity, occurrence and phenotype of the disease in a Swedish ALS/control cohort. Blood samples...
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