GeneticsbioRxivPreprint
Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease
Mafalda Raposo, Jeannette Hübener‐Schmid, Rebecca Tagett…·Manuela Caroline Ferreira Lima
The paper identifies and compares the abundance of ATXN3 splice variants in blood and cerebellum of SCA3/MJD patients and controls, finding tissue-specific expression patterns of full-length ataxin-3 isoforms.
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