Article
Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.
The Journal of molecular diagnostics : JMD - 1 Aug 2005
Schrijver Iris, Oitmaa Eneli, Metspalu Andres, Gardner Phyllis
Abstract excerpt
Cystic fibrosis (CF), which is due to mutations in the cystic fibrosis transmembrane conductance regulator gene, is a common life-shortening disease. Although CF occurs with the highest incidence in Caucasians, it also occurs in other ethnicities with variable frequency. Recent national guidelines suggest that all couples contemplating pregnancy should be informed of molecular screening for CF carrier status for...
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