Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptionsā˜†

Trinucleotide repeat disorders are a heterogeneous group of diseases caused by the expansion, beyond a pathogenic threshold, of unstable DNA tracts in different genes. Sequence interruptions in the repeats have been described in the majority of these disorders and may influence disease phenotype and...

Full description

Bibliographic Details
Main Authors: Fratta, Pietro, Collins, Toby, Pemble, Sally, Nethisinghe, Suran, Devoy, Anny, Giunti, Paola, Sweeney, Mary G., Hanna, Michael G., Fisher, Elizabeth M.C.
Format: Online
Language:English
Published: Elsevier 2014
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3898077/