Search

Your search keyword '"Sarto, Elisa"' showing total 1 results
Start Over Author "Sarto, Elisa" Publication Type Magazines
1 results on '"Sarto, Elisa"'

1. Digenic inheritance of STUB1variants and TBPpolyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48

Author

Magri, Stefania, Nanetti, Lorenzo, Gellera, Cinzia, Sarto, Elisa, Rizzo, Elena, Mongelli, Alessia, Ricci, Benedetta, Fancellu, Roberto, Sambati, Luisa, Cortelli, Pietro, Brusco, Alfredo, Bruzzone, Maria Grazia, Mariotti, Caterina, Di Bella, Daniela, and Taroni, Franco

Abstract

This study aimed to unravel the genetic factors underlying missing heritability in spinocerebellar ataxia type 17 (SCA17) caused by polyglutamine-encoding CAG/CAA repeat expansions in the TBPgene. Alleles with >49 CAG/CAA repeats are fully penetrant. Most patients, however, carry intermediate TBP41-49alleles that show incomplete penetrance.

Published
2022
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results