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Updated assessment of cystic fibrosis mutation frequencies in non-Hispanic Caucasians.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000

Palomaki Glenn E, Haddow James E, Bradley Linda A, FitzSimmons Stacey C

Abstract excerpt

PURPOSE: To update estimates of individual and cumulative cystic fibrosis (CF) mutation frequencies in non-Hispanic Caucasians for the prenatal screening panel recommended by American College of Medical Genetics and to determine the impact on screening performance. METHODS: Two data sources were used. In the first (CF Genetic Analysis Consortium), our re-analysis was restricted to North American studies. In the...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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PMID: 11882786
DOI: 10.1097/00125817-200203000-00007

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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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