mutation detection

Clinical trials highlights the importance of correct CFTR mutation detection in cystic fibrosis patients

Cystic Fibrosis is one of the most common genetic disorders. The disease is caused by mutations within the cystic fibrosis transmembrane conductance regulator gene (CFTR) leading to gradually decreasing lung function in affected patients. Current treatment protocols include symptomatic treatments for cystic fibrosis and a CFTR potentiator (Ivacaftor), which increases CFTR channel opening at the …

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CRISPR Helps BRCA1 Researchers Determine Functional And Non-Functional Mutations

BRCA1 variants may generally be divided into three categories: benign variants, which cause no clinical concern; deleterious variants, which are associated with high risk of cancer and variants of uncertain significance (VUS). Although millions of women worldwide have been sequenced for BRCA1 and 2, VUS continue to pose an important clinical problem for geneticists when …

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