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Evaluation and use of a synthetic quality control material, included in the European external quality assessment scheme for cystic fibrosis.

Human mutation - 1 Aug 2008

Berwouts Sarah, Gordon Joan T, Rundell Clark A, Barton David E, Dequeker Elisabeth

Abstract excerpt

Assuring high quality within the field of genetic testing is fundamental, as the results can have considerable impact on the patient and his or her family. The use of appropriate quality control (QC) samples is therefore essential. Diagnostic laboratories mainly use patient samples as QC material, which of course include a maximum of two mutations per sample. Bearing in mind that some assays (such as for cystic...

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Source

Identifiers

PMID: 18470946
DOI: 10.1002/humu.20764

Genes

CFTR

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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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