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1 nd functional avidities for both SL9 and its natural mutations.
3 base substitutions tested, which include six natural mutations and 14 artificially introduced ones, h
4 e, conformational changes induced by keratin natural mutations and extensive tissue injury result in
7 ntrolled by CTRC in a manner that individual natural mutations are unlikely to increase stability eno
11 is was performed to create 7 TM mutants with natural mutations either previously identified (Ala25Thr
12 sly suspected and illustrates the utility of natural mutations for defining functional domains in pro
17 4 must be functionally important because its natural mutation in cone photoreceptor CNG channels is a
18 in-like CTRC variant highlights how the same natural mutation in homologous pancreatic serine proteas
20 Kinetic studies have demonstrated that this natural mutation in the coenzyme-binding site decreases
24 activity and correlating with the absence of natural mutations in regions bordering the third cluster
25 ues in airway smooth muscle, suggesting that natural mutations in the PDE4D gene have profound effect
26 chemical evidence that certain (but not all) natural mutations in the TM gene reduce expression and i
27 This study illustrates the power of using natural mutations in transgenes as guides for studying s
29 nts regulate alpha globin expression and how natural mutations interfere with this mechanism to cause
30 e expression in pancreatic beta-cells due to natural mutation is responsible for susceptibility to vi
32 a molecular basis for the observation that a natural mutation of Arg-57 in humans is associated with
33 drophobic pocket that binds Val-6(beta), the natural mutation of HbS, and the latter site is a promin
35 We found that asebia mice homozygous for a natural mutation of the gene for SCD1 (SCD-/-) are defic
37 y, and immunodeficiency represents the first natural mutation of this transcription factor in a human
39 emoval of the palmitate or site-directed and natural mutations of the modified cysteine result in los
42 s, but abnormal conditions, such as specific natural mutations or oxidation, produce an altered state
44 differences in C. albicans and delineates a natural mutation that alters the balance between commens
46 affect the nervous system provide a host of natural mutations that can be deployed in the quest to u
47 cts of gene regulation have been revealed by natural mutations that downregulate globin gene expressi
49 nvestigate the heterogeneity in the types of natural mutations that occur in covR and covS and the ph
50 We used alanine scanning mutagenesis and natural mutations to map the subregion of the MH1 domain
51 actor IX (residues 403-415) contains several natural mutations which result in mild to severe forms o
52 c stem/progenitor (CD34+) cells to emulate a natural mutation, which deletes the MCS-R2 alpha-globin
53 tural frameworks can be derived by using non-natural mutations, which differ from those found in came
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