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For example, scientists found the zebra fish mutation which corresponds to the mutated gene in those with muscular dystrophy, a rare genetic condition.
ATP binding and activation was abolished by a point mutation which corresponds to the mutation causing retinitis pigmentosa [ 14].
The R335H mutation, which corresponds to the adult-onset mutation R420H in human Kv3.3, substitutes a histidine residue for the third arginine in the S4 transmembrane segment in the voltage sensor domain (Mock et al., 2010; Waters et al., 2006).
Patients and Tg mice with the APP Osaka (E693Δ) mutation, which corresponds to E22Δ in the Aβ sequence, accumulate abundant Aβ oligomers within neurons without developing SPs and showed early cognitive dysfunction [ 54, 55].
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In an attempt to generate a constitutive active Mkk4 (Mkk4Asp), we introduced the Ser277→Asp and Thr281→Asp mutations, which corresponds to the mutations that were introduced to generate HepCA [12] (Figure 1P).
We identified one patient with 12 nonsilent mutations, which corresponds to about 10 times the average mutation rate observed in breast cancer [ 8].
TILLING of Sl-eIF4E1 yielded seven independent point mutations, which correspond to one silent, four intronic, one missense and one splicing site mutations (Table 3).
TILLING of Sl-eIF4G yielded fourty three point mutations, which correspond to sixteen silent, seven intronic and twenty missense mutations (Table 3).
TILLING of SAD yielded 14 independent point mutations, which correspond to 8 silent and 6 missense mutations (Table 3).
TILLING of FatA yielded 12 independent point mutations, which correspond to 6 silent, 3 missense, 1 stop codon and 2 promoter region mutations (Table 3).
Conversely to Mendelian genetics, which concern genes that remain identical through successive generations, the process of evolution involves mutations, which correspond to changes occurring in the DNA.
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CEO of Professional Science Editing for Scientists @ prosciediting.com