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Article

A simple and rapid analysis of triplet repeat diseases by expand long PCR.

Clinical chemistry and laboratory medicine - 1 Dec 2001

Hećimović S, Vlasić J, Barisić L, Marković D, Culić V, Pavelić K

Abstract excerpt

It is now known that 15 monogenic, mostly neurological, disorders are caused by the same type of mutations that occur in trinucleotide repeat sequences in certain genes. Since they share a nonspecific and variable phenotype, the accurate diagnosis could be made only by DNA analysis. We developed an Expand Long PCR assay that provides more reliable molecular diagnosis of such disorders. Its main characteristics...

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Identifiers

PMID: 11798087
DOI: 10.1515/CCLM.2001.202

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

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