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Recommendations for quality improvement in genetic testing for cystic fibrosis. European Concerted Action on Cystic Fibrosis.

European journal of human genetics : EJHG - 1 Sept 2000

Dequeker E, Cuppens H, Dodge J, Estivill X, Goossens M, Pignatti P F, Scheffer H, Schwartz M, Schwarz M, Tümmler B, Cassiman J J

Abstract excerpt

These recommendations for quality improvement of cystic fibrosis genetic diagnostic testing provide general guidelines for the molecular genetic testing of cystic fibrosis in patients/individuals. General strategies for testing as well as guidelines for laboratory procedures, internal and external quality assurance, and for reporting the results, including the requirements of minimal services in mutation testing,...

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PMID: 11108532
DOI: 10.1038/sj.ejhg.5200487

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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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