Sequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-primed PCR interpretation: a large multinational screening study.

doi:10.1080/21678421.2016.1262423

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Article

Sequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-primed PCR interpretation: a large multinational screening study.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 May 2017

Nordin Angelica, Akimoto Chizuru, Wuolikainen Anna, Alstermark Helena, Forsberg Karin, Baumann Peter, Pinto Susana, de Carvalho Mamede, Hübers Annemarie, Nordin Frida, Ludolph Albert C, Weishaupt Jochen H, Meyer Thomas, Grehl Torsten, Schweikert Kathi, Weber Markus, Burkhardt Christian, Neuwirth Christoph, Holmøy Trygve, Morita Mitsuya, Tysnes Ole-Bjørn, Benatar Michael, Wuu Joanne, Lange Dale J, Bisgård Carsten, Asgari Nasrin, Tarvainen Ilkka, Brännström Thomas, Andersen Peter M

Abstract excerpt

A large GGGGCC-repeat expansion mutation (HREM) in C9orf72 is the most common known cause of ALS and FTD in European populations. Sequence variations immediately downstream of the HREM region have previously been observed and have been suggested to be one reason for difficulties in interpreting RP-PCR data. Our objective was to determine the properties of these sequence variations with regard to prevalence, the...

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PMID: 27936955
DOI: 10.1080/21678421.2016.1262423

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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