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Our results show that private mutations, ethnic specific mutations, and recurrent founder mutations could explain the mutational heterogeneity of XP-C group in Tunisia.
This mutational spectrum, including post-zygotic mutations, could explain the focal nature with the asymmetric bone distribution observed in PDB, and contribute to the variable expressivity observed in familial forms of PDB with autosomal dominant pattern of inheritance.
Finally, mutations could explain part of the clonal diversity.
BRCA2 (and to some extent BRCA1) mutations could explain these findings.
However, also absence of selection pressure (neutral mutations) could explain for large variation within genes.
Alternatively, virus mutations could explain a change in virulence and the absence of clinical cases.
Similar(52)
Molecular modeling and dynamics results suggest that the rearrangement of the hydrogen-bonding network near the E43G mutation could explain the improved functional stability and neutralization properties of both the diabody D4 and scFv LER.
A mosaicism for the p.Gly503Ala mutation could explain our finding of this aberration in a life-born child.
To assess whether a genetic mutation could explain the observed phenotypic difference, we sequenced genes implicated in β-h/c production or regulation.
This led us to the conclusion that the additional mutation could explain the earlier onset of macular abnormalities in the proband when compared with his siblings.
As a clear difference between both types of constructs was that the diglycine motif was mutated in the SHP proteins, thereby impairing their processing, a further study was made to determine whether this mutation could explain the difference.
More suggestions(15)
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