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Article

Improved PCR based methods for detecting C9orf72 hexanucleotide repeat expansions.

Molecular and cellular probes - 1 Aug 2016

Cleary Elaine M, Pal Suvankar, Azam Tara, Moore David J, Swingler Robert, Gorrie George, Stephenson Laura, Colville Shuna, Chandran Siddharthan, Porteous Mary, Warner Jon P

Abstract excerpt

Due to the GC-rich, repetitive nature of C9orf72 hexanucleotide repeat expansions, PCR based detection methods are challenging. Several limitations of PCR have been reported and overcoming these could help to define the pathogenic range. There is also a need to develop improved repeat-primed PCR assays which allow detection even in the presence of genomic variation around the repeat region. We have optimised PCR...

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Identifiers

PMID: 27288208
DOI: 10.1016/j.mcp.2016.06.001
PMCID: PMC4978699

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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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