Search Results for mutation

... Abstract This is a historical review of the discovery of the first mutation detected in autosomal dominant craniosynostosis. The mutation was found in one large family in whom craniosynostosis segregated as an autosomal dominant trait. Craniosynostosis in this family was highly variable...

... Abstract FGFR-associated bone dysplasias and craniosynostosis can have an astonishingly high frequency of recurrent nucleotide substitutions, which are paternally derived and age-dependent. There is increased probability for these point mutations to occur in the paternal germline in an age...

... Abstract The frissonnant (fri) mutation is an autosomal recessive mutation which spontaneouslyappeared in 1977 in the stock of C3H mice of the Pasteur Institute in Paris. fri/fri mutationcauses locomotor instability and rapid tremor. The tremor ceases when mutated animalssleep...

... Abstract From various estimates of the mutation rate per nucleotide per generation, centering around 1–2 × 10−8 and the number of nucleotide pairs, 3 × 109 per genome, the number of new mutations in a human zygote is very large, in the order of 100. The mutation rate is an order of magnitude...