目标序列测序覆盖度不低于99%,结果提示患儿HUWE1基因c.12702(exon82)T>G(p.Ile4234Met),突变位于X染色体,据ACMG指南(2015年),变异致病证据为PS2+PM1+PM2+PP3,其父母该位点均无突变,先证者为杂合新发突变(图3),符合X染色体显性遗传疾病发病机制,检索...
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ADP1, in which Ile105, Pro108, Phe253, and Arg221 are conserved in the catechol 1,2-dioxygenase family18–22. This structural information lays a solid foundation for the rational redesign of CatA to improve its catalytic activities and other related functions. Recently, the catalytic properties...
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In order to avoid the possibility of exceeding the FCC radio frequency exposure limits, human proximity to the antenna shall not be less than 20 cm during normal operation. This device complies with Part 15 of FCC Rules. Operation is subject to the following two conditions: (1) this device ...
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Cells were used to inoculate three 17 ml screw-cap test tubes to give an OD at 680 nm of 0.03 for each strain in 16 ml of M22+ media. Tubes were illuminated at 30 μMol cm− 2 incandescent light from ORASM 116 W halogen bulbs. Cell cultures were continuously stirred to prevent ...
The formulation and activated the metabolic pathways of 3-methyl-1-butyraldehyde, 3-methyl-1-butanol and 2-methyl-1-propanol through Leu and Ile, resulting in a 52.6% increase in malt-like aroma. This study provides a new idea for the regulation of soy sauce fermentation. select article ...