%0 Journal Article
%T Validation of a Long-Read PCR Assay for Sensitive Detection and Sizing of C9orf72 Hexanucleotide Repeat Expansions
%A EunRan Suh
%A Kaitlyn Grando
%A Vivianna M. Van Deerlin
%J The Journal of Molecular Diagnostics
%D 2018
%R 10.1016/j.jmoldx.2018.07.001
%X A hexanucleotide GGGGCC repeat expansion in C9orf72 is the most common genetic cause
of amyotrophic lateral sclerosis and frontotemporal degeneration. Accurate determination
and quantitation of the repeat length is critical in both clinical and research settings.
However, because of the complexity of the C9orf72 expansion with high GC content,
large size of repeats, and high rate of insertions/deletions (indels) and sequence
variations in the flanking regions, molecular genetic analysis of the locus is challenging.
%U https://jmd.amjpathol.org/article/S1525-1578(18)30116-8/fulltext