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To determine which of these two mutations is responsible for the emb-6 (g36ts ) embryonic-lethal phenotype, complementation tests were performed.
Accumulation of somatic mutations is responsible for development of breast cancer, as 85% of affected women have no family history of the disease (http://www.breastcancer.org).org
These results indicate that a defect caused by the ltsA mutations is responsible for temperature-sensitive growth and L-glutamate overproduction by C. glutamicum.
An exception is made for women from particular ethnic backgrounds, such as Ashkenazi Jewish, French-Canadian or Polish women; in these groups, a small number of founder mutations is responsible for the majority of hereditary cancers [ 2- 4].
However, based on the frequency of these mutations occurring independently in the rest of the data, it was found that these two mutations are found together within a single element significantly more often than would be expected due to parallel mutation (chi-squared test, p < 0.01), therefore suggesting a source element containing these two mutations is responsible for their propagation.
These findings argue against an increased rate of de novo mutagenesis in patients with OPA1 mutations, consistent with there being no direct effect on the polymerase γ and in keeping with previous suggestions that accelerated clonal expansion of existing somatic mutations is responsible for the cellular cytochrome c oxidase defects (28).
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Point mutations are responsible for converting certain RAS proto-oncogenes to oncogenes.
This fateful mutation, when coupled with numerous other mutations, was responsible for the origins of eyes and vision in animals.
Such mutations are responsible for a wide range of disease states, especially among G-protein coupled receptors.
The authors applied the CRISPR/Cas9 system to edit the gene HBB, which encodes the human β-globin protein whose mutations are responsible for β-thalassaemia.
Germline-inactivating DICER1 mutations are responsible of a familial tumour susceptibility syndrome with an increased risk of tumours, mainly pleuropulmonary blastoma (PPB).
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