in which both the carrier frequency (1 in 25 to 30) and the detectability of the majority of prevalent mutations (25 mutations detect >80% of CF alleles) are sufficiently high to justify efficient ...
Expanded carrier screening and the law of unintended consequences: From cystic fibrosis to fragile X
The CF mutation screening panel that engendered ... common inherited cause of mental retardation, with an aggregate carrier frequency for the FMR1 premutation allele in the US population recently ...
All participants were recruited from a CF patient registry in Belgium. Results & Conclusion We found that very few patients and parents were aware of the offer of DTC genetic testing for carrier ...
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