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We have confirmed the efficiency of this approach with the identification of β-globin gene point mutation, which results in the reduced production of globin in an inherited hemoglobin disorder thalassemia disease.
Our study demonstrates a novel dominant-negative Kv11.1 mutation, which results in degraded non-functional channels leading to a LQT2 phenotype.
Tg2576 mice express human APP containing the familial Alzheimer's disease (FAD) Swedish mutation, which results in elevated levels of Aβ peptides [29].
Compared to most H5N1 viruses in China and southeastern Asia in 2002 2004, raccoon dog isolates exhibited a T/S156A mutation, which results in the loss of a glycosylation site [1], [6], [8].
To facilitate the identification of donor-derived melanophores, particularly from enz donors, we utilized hosts homozygous for the goldenb1 mutation, which results in pale melanophores that are distinct from wild-type melanophores [7], [61].
To facilitate the identification of donor-derived melanophores, we utilized hosts homozygous for the goldenb1 mutation, which results in pale melanophores that are distinct from wild-type melanophores [7], [61].
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The npr1 mutation, which resulted in a failure to express SAR, had no effect on fitness under growth chamber conditions, but decreased fitness in the field.
In Mosdi1 R left flank, a point mutation, which resulted in an amino-acid substitution (H245L), is made to acquire carboxin resistance (Fig. 2c).
Disadvantages of conventional genetic algorithm for network reconfiguration that a large amount of unfeasible solutions are created after crossover and mutation, which result in very low searching efficiency, are completely overcome.
However, the R580A mutation which resulted in an increase in in situ transamidating activity also facilitated TG2's role as a pro-death protein.
Savage and colleagues [ 27] reported a dominant negative mutation of PPARγ arising from a proline-467-leucine mutation, which resulted in severe peripheral and hepatic insulin resistance, partial lipodystrophy (the loss/reduction of certain fat depots) and hepatic steatosis.
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