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M.AckermannT.HartlebenG.EichwaldS.KortmanG.KiehntopfM.et al (2015)

NHR1 regulates fat metabolism genes to modulate protein homeostasis To elucidate the mechanism behind the effect of NHR1 function, we performed transcriptomic analysis on the following strains: 40Q, 40Q

Nonsense and frameshift mutations, however, are typically associated with lower carnitine transport and are more prevalent in symptomatic individuals, whereas missense mutations and in-frame deletions (with some residual carnitine transport activity) are more prevalent in asymptomatic mothers identified by newborn screening of their unaffected infants [82]

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