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Article

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...

Topics

Cystic Fibrosis
Gene Frequency
Genetic Testing
Humans
Mutation
North America
Prenatal Diagnosis
Risk Assessment
White People

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

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

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