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There are 196 mutations known to affect the cystic fibrosis gene, CFTR.
Three were L452P mutations, known to cause only low-level resistance31,32.
So far, Beatrice doesn't have any of the mutations known to cause those diseases, and her heart looks healthy.
For instance, the knockout surveys carried out by MacArthur's lab have found more than 40 healthy people with mutations known to prove fatal to mice.
The flu virus mutations known to resist antiviral drugs appear to occur in an altogether different binding site than the one Dadon and his colleagues discovered.
It will be the first comprehensive center to focus on a specific set of mutations known to cause cancer.
To optimize hydrogen production, we combined in a single strain several mutations known to enhance hydrogen production in anoxygenic phototrophic bacteria.
But it could also have a wider impact, since there are other core components of the HDAC3 complex that can be affected by mutations known to cause autism spectrum disorder or intellectual disability, he says.
They searched for mutations known to be important to cancer, whether by allowing cells to divide unchecked or by helping tumors recruit blood supplies or spread throughout the body.
And scientists have begun to uncover that mutations known to be important in one kind of cancer can also occur in another: a drug developed for lung cancer could, in rare cases, help a patient with melanoma.
The list of gene mutations known to promote prostate cancer continues to grow, which has led to questions about the role of genetic testing in detecting and managing the disease.
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CEO of Professional Science Editing for Scientists @ prosciediting.com