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Some of these mutations alter specifically the configuration of the ATP-binding kinase pocket (V654A and T670I), inhibiting imatinib binding.
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To determine whether DAT mutations alter DAT surface expression, biotinylation assays were performed as described previously72.
We used molecular dynamics simulations to assess how these mutations alter the secondary and tertiary structures of human PFN1.
Different disease-causing mutations alter the Nav1.4 channel function through distinct mechanisms.
Functional studies revealed these mutations alter APP processing.
These mutations altered the amount of helical content.
Ghanem, M., Li, L., Wing, C. & Schramm, V. L. Altered thermodynamics from remote mutations altering human toward bovine purine nucleoside phosphorylase.
These mutations altered cellular proliferation, apoptosis and anchorage-dependent growth.
: Missense mutation, altered isoelectric point.
recA1 : Missense mutation, altered isoelectric point.
Hughes, A. E. et al. Mutation altering the miR-184 seed region causes familial keratoconus with cataract.
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