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According to preliminary results definite diagnosis based on disease-causing mutations was obtained directly in 15 patients and probable disease-causing mutations were found in another 12 patients.
Genotypic confirmation of all mutations was obtained by PCR using primers flanking the deleted region (data not shown).
The information on cancer-related gene mutations was obtained by screening the database Cosmic [ 37].
Complementation of the mutations was obtained by introduction of the low copy plasmid pMR20 [ 47] carrying either znuK or znuL.
The lowest number of mutations was obtained for the β-TUB gene region which is expected as this region was shown to be under positive selection.
Sturchler Pierrat et al., in parallel with the APP23, developed a line in which only a twofold overexpression of hAPP bearing the Swedish and the Indiana mutations was obtained.
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If one factors in the presence of mutator mutations, or other mechanisms of genetic instability, a proportionately higher number of mutations is obtained.
There is also the possibility that these mutations were obtained as an adaptation in chicken eggs.
The point mutations were obtained using an overlapping PCR strategy described in detail elsewhere [64].
dFKBP59 and Atox1 mutations were obtained from the Bloomington Drosophila Stock center (http://flystocks.bio.indiana.edu).edu
Mutations were obtained by the QuickChange Site-Directed Mutagenesis Kit (Stratagene).
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variants was obtained
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mutations was observed
mutations was introduced
mutations was calculated
mutations was identified
mutations was verified
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