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Among them, DXR plays roles in the methyl-D-erythritol 4-phosphate pathway (MEP) and its mutation causes chlorine phenotypes, indicating its significance for light response in rice.
Its mutation causes recessive early-onset PD [31].
Its mutation causes mild hearing loss.
Its mutation causes chronic neutrophilia [ 34].
Its mutation causes Kindler syndrome, whose symptoms include skin blistering, skin atrophy, photosensitivity, colonic inflammation and mucosal stenosis [ 32].
Interestingly, the W74/E101/E74 position is only hydrophobic in RAMP1 where its mutation causes an increase in AM and AM2 binding but has no effect on CGRP binding (Qi et al., 2008; Moore et al., 2013).
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And MYH3 is expressed mainly in embryo and muscle [ 55], and its mutation caused the Freeman-Sheldon and Sheldon-Hall syndrome [ 56].
Our results suggested that OsRDR1 might play a role in maintaining the intrinsic locus-specific DNA methylation patterns, as its mutation caused alteration of methylation at some of the loci we analyzed.
One or possibly both its mutations cause a switch into an intertwined dimer, in which the molecular partners exchange nearly half of their fold.
Its mutations cause autosomal dominant Parkinson's disease.
18, 19 Its mutations cause abnormal synaptic dopamine neurotransmission in both LRRK2 knockin and transgenic animal models.
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