Article
Cystic fibrosis carrier testing in an ethnically diverse US population.
Clinical chemistry - 1 Jun 2011
Rohlfs Elizabeth M, Zhou Zhaoqing, Heim Ruth A, Nagan Narasimhan, Rosenblum Lynne S, Flynn Kerry, Scholl Thomas, Akmaev Viatcheslav R, Sirko-Osadsa D Alexa, Allitto Bernice A, Sugarman Elaine A
Abstract excerpt
BACKGROUND: The incidence of cystic fibrosis (CF) and the frequency of specific disease-causing mutations vary among populations. Affected individuals experience a range of serious clinical consequences, notably lung and pancreatic disease, which are only partially dependent on genotype. METHODS: An allele-specific primer-extension reaction, liquid-phase hybridization to a bead array, and subsequent fluorescence...
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