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We provided evidence that Afg3l2 −/− mice resemble patients carrying homozygous mutations, showing a severe neurological syndrome that leads to lethality at P16 (5).
The strategy of using three generations of a family increased the robustness of detecting rare mutations, showing a similar performance between common mutations and rare mutations (Additional file 1, Figure S4).
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Previously, multiple mutations showing an inverse dosage effect on the white eye color gene were isolated by various genetic mutagenesis screens (Rabinow et al. 1991).
In this way, homozygous mutations show a mutated homoduplex by HRM which is perfectly discriminated against wild type homoduplex and against mutated heteroduplex.
Consequently, cells from patients with pathogenic mtDNA mutations show a selective defect in mitochondrial inner membrane fusion.
Knockin (KI) mouse models carrying FHM1 or FHM2 mutations show a lower threshold for CSD induction and a higher velocity of CSD propagation.
In severe EBS, the mutation is associated with aggregates of nonfilamentous keratin protein, and cell lines carrying such mutations show a constitutively activated stress response.
Only reads with 9% mutations showed a pronounced reduction in the correlation coefficient.
In some transposition processes, strains with hns mutations show a low-level of transposase production.
The χ2 test, under the hypothesis of a homogeneous distribution of mutations showed a tenuous significance (p = 0.05).
Neither the sasF nor vraE mutations showed a significant reduction in arthritis development of SH1000 in this model (data not shown).
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