Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.
1489.15RON
În stoc
Număr Catalog 665-STJ22739CategorieAfaceri și industrie > Știință și laboratorFurnizorSt John's LaboratoryGentaurDimensiune100 µlTipsingle