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A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy
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We detected a lower arginine/proline media ratio (lower metabolite concentrations in arginine medium compared to proline medium) for 2-oxoglutarate, linoleate, 11,14-eicosadienote, proline, 2-aminoadipate, pyroglutamate, para-toluate, 2-aminobutyrate, lysine, glutamine, alanine, glutamate, serine, and margarate in gdh3 / gdh3 mutants compared to wild-type
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The ASD group exhibited significantly higher scores on three of the four subscales of AASP (Low Registration, Sensory Sensitivity, and Sensation Avoiding), and significantly lower scores on the remaining subscale (Sensation Seeking)
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