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Article

A novel method for creating artificial mutant samples for performance evaluation and quality control in clinical molecular genetics.

The Journal of molecular diagnostics : JMD - 1 May 2005

Jarvis Michael, Iyer Ramaswamy K, Williams Laurina O, Noll Walter W, Thomas Kirk, Telatar Milhan, Grody Wayne W

Abstract excerpt

The lack of readily available, patient-derived materials for molecular genetic testing of many heterozygous or rare disorders creates a major impediment for laboratory proficiency and quality control procedures. The paucity of clinically derived mutation-positive samples could be surmounted if it were possible to construct artificial samples containing mutations of interest that would sufficiently resemble...

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Identifiers

PMID: 15858148
DOI: 10.1016/S1525-1578(10)60551-X
PMCID: PMC1867527

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CFTR

Variants

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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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