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However, no mutation was found by mutational analysis of the PKD2 gene in the grandmother who died at the age of 80.
Traditionally, AM-related genes have been identified either by mutant screenings followed by characterization of the mutated gene (forward genetics), or by transcript profiling, followed by mutational analysis of AM-induced genes (reverse genetics).
The molecular basis for interaction of Gbetagamma with effectors was characterized by mutational analysis of Gbeta residues that make contact with Galpha-GDP.
The molecular basis for interaction of Gβγ with effectors was characterized by mutational analysis of Gβ residues that make contact with Gα-GDP.
The results of this mutational analysis have implications for the structure of the MIP-1 beta-heparin complex, and a comparison of these results with those obtained by mutational analysis of the MIP-1 alpha-heparin interaction suggests a possible structural difference between the MIP-1 beta-heparin and MIP-1 alpha-heparin complexes.
This is congruent with the results obtained by mutational analysis of the PA-binding domain [28].
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MRI brain was performed in ten patients with neurological symptoms Diagnosis was confirmed by mutational analysis (sequencing of ATP7B gene) in 64 patients (25 asymptomatic and 39 symptomatic) (48 of whom were previously reported in Abdelghaffar et al., 2008 study) [ 9].
We next confirmed these data by a mutational analysis of the AmphiVent1 promoter.
Her diagnosis was confirmed by a mutational analysis of the ELANE gene, the causative gene of CN, which revealed a novel mutation.
Structural studies of CGTases complemented by mutational analysis have helped to identify several of such residues (Table 1; Leemhuis et al. 2002b; van der Veen et al. 2000b .Several conserved CGTase residues are found at the −1 and −2 subsites, which are crucial in glycosidic bond cleavage.
The regulation of EcR on insect development has been well demonstrated by mutational analysis and by using inducible expression of double stranded RNA (dsRNA) of EcR isoforms in D. melanogaster, which resulted in a block in neuronal remodeling and ecdysone responses during larval molting and metamorphosis [25], [26], [27], developmental arrest during embryogenesis and failure of pupation [28].
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