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This bolsters consideration of an empirical trial of sulfonylureas in newly diagnosed neonatal diabetic patients before results of genetic testing are available, given that ATP-sensitive potassium channel mutations cause almost 50% of cases.
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In fact, most lethal mutations cause only very rare diseases.
Restricting the analysis to multi-nucleotide codon mutations avoids the confounding effects of sequencing and reverse-transcription errors, which cause almost exclusively single-nucleotide changes.
At least 80 mutations cause transthyretin diseases, Dr. Kelly said.
The mutations cause the muscle to grow excessively, thickening the heart and causing arrhythmia, which can lead to sudden death.
Conversely, human GLIS3 mutations cause neonatal diabetes.
SP7 mutations cause recessive OI.
Our focus is cancer which arises from genome mutations caused by ROS.
Perhaps the fundamental importance of DNA damage control in aging is best illustrated by the fact that human monogenic progeroid syndromes are caused almost exclusively by mutations in DNA repair genes whose deficiency also result in premature aging in mouse models.
As described above, mutations of the other three histidines (H34A, H135A, and H221A) caused almost no perturbations in the N H stretching vibrational modes in the 2800 2400 cm–1 domain.
Indeed, the APOBEC and AID enzymes cause mutations almost exclusively in C/G nucleotides, while we observed mutations of all 4 nucleotides (Figure 3).
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