Articles with "scar32 functional" as a keyword



SCAR32: Functional characterization and expansion of the clinical‐genetic spectrum

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Published in 2024 at "Annals of Clinical and Translational Neurology"

DOI: 10.1002/acn3.52094

Abstract: Biallelic mutations in PRDX3 have been linked to autosomal recessive spinocerebellar ataxia type 32. In this study, which aims to contribute to the growing body of knowledge on this rare disease, we identified two unrelated… read more here.

Keywords: genetic spectrum; clinical genetic; scar32 functional; characterization expansion ... See more keywords