Full CFTR Gene Analysis Identifies Mutations Standard Testing Misses

Full CFTR Gene Analysis Identifies Mutations Standard Testing Misses

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Full CFTR Gene Analysis Identifies Mutations Standard Testing Misses

A complete analysis of the CFTR gene, which is defective in cystic fibrosis (CF), identifies potential disease-causing mutations that would be missed by standard testing, as well as variations that may explain differences in disease course and treatment responses, a study of more than 5,000 CF patients shows. Still, nearly all (99.6%) patients carried a least one known disease-causing mutation that is covered by current or emerging treatments, highlighting that standard genetic analysis for those…

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