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Article

Small deletion in C9orf72 hides a proportion of expansion carriers in FTLD.

Neurobiology of aging - 1 Mar 2015

Rollinson Sara, Bennion Callister Janis, Young Kate, Ryan Sarah J, Druyeh Ronald, Rohrer Jonathan D, Snowden Julie, Richardson Anna, Jones Matt, Harris Jenny, Davidson Yvonne, Robinson Andrew, Ealing John, Johnson Janel O, Traynor Bryan, Mead Simon, Mann David, Pickering-Brown Stuart M

Abstract excerpt

Frontotemporal lobar degeneration is a highly familial disease and the most common known genetic cause is the repeat expansion mutation in the gene C9orf72. We have identified 2 brothers with an expansion mutation in C9orf72 using Southern blotting that is undetectable using repeat-primed polymerase chain reaction. Sequencing using high concentrations of DNA denaturants of a bacterial artificial chromosome clone...

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Identifiers

PMID: 25595499
DOI: 10.1016/j.neurobiolaging.2014.12.009
PMCID: PMC4353501

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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