Exact(3)
The probability of any individual gene in any cell acquiring a mutation is, however, low.
The calculated effect of the Ile80Phe mutation is however somewhat overestimated compared to experiments.
Mutation is however, not the only neutral process that could explain differences in prokaryotic nucleotide composition.
Similar(5)
The mutation was however identified in two more patients of this family (III:14 and III:8, Figure 1A).
This novel mutation was, however, shown to cause defective receptor shedding, and is associated with reduced levels of sTNFR1 (soluble TNFR1).
Human studies including patients with genotype-verified diagnosis of HCM, especially those with a single causative mutation, are, however, few and generally small, as shown by recent studies.
Whether these regions are less likely to reveal de novo mutations is however questionable.
The functional characterization of ClC-1 channel mutations is however of great clinical relevance, because this should help to reveal the underlying mechanisms of each specific symptom and to define strategies to better address treatment in individual myotonic patients.
Related(2)
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