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Electrophysiological analyses of KCNQ1 P320H and the previously reported KCNQ1 P320A mutation indicate that both channels are non-functional and suppress wild type IKs in a dominant-negative fashion.
The heterogeneous disease progressions among ADRP patients inheriting the same rhodopsin mutation indicate that environmental conditions contribute to the severity of this disease.
Biochemical studies on NGF and proNGF carrying this mutation indicate that they are either without biological activity in vivo or are less effective at binding their receptors (Covaceuszach et al., 2010; Capsoni et al., 2011).
Previous studies of fibre characteristics in m. longissimus dorsi in pigs that carry the PRKAG3 mutation indicate that alterations may occur in the subgroups of type II fibres [ 4, 23].
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Following a hunch, they decided to ask whether Mr. Byrne had had the mutation, too, and whether the mutation indicated that the four families were related to him.
Mutational analysis of the EcR LBD) revealed that ligand entry and exit is affected differently by the same point mutation, indicating that different pathways are used for association and dissociation of the ligand.
Of the white flowered lines, 78 carried the intron 6 splice site mutation, indicating that it is common (Fig. S3B).
Expression of this construct rescued a bah-1 mutation, indicating that the modification did not disrupt function.
We found that glutamate uptake was reduced in glia homozygous for the Clock mutation or the NPAS2 null mutation, indicating that their gene products augment glutamate uptake.
The dramatic reduction in the expression of the glucosinolate biosynthesis genes by the myb28myb29 double mutation indicates that MYB28 and MYB29 contribute equally to activation of these genes.
In general, detection of a somatic mutation indicates that a new allele provides a differentiation, growth or survival advantage for the cell population(s) in which it appears.
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CEO of Professional Science Editing for Scientists @ prosciediting.com