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Article

Caution regarding the interpretation of homoallelism in polyglutamine multiplex assays: a recommendation for confirmatory testing of homozygous alleles.

The Journal of molecular diagnostics : JMD - 1 Sept 2013

Smith Danielle C, Esterhuizen Alina, Greenberg Jacquie

Abstract excerpt

Spinocerebellar ataxia type 7 (SCA7) is an inherited dominant neurodegenerative disease caused by the expansion of a CAG repeat within the ATXN7 gene. Standard molecular diagnostic testing for SCA7 involves amplification of the region surrounding the CAG repeat via end-labeled PCR and subsequent capillary electrophoresis. In addition, multiplex methods exist that may be used to test for multiple polyglutamine...

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Source

Identifiers

PMID: 23871770
DOI: 10.1016/j.jmoldx.2013.05.009

Genes

ATXN7

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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