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Carnitine content and expression of mitochondrial beta-oxidation enzymes in placentas of wild-type (OCTN2(+/+)) and OCTN2 Null (OCTN2(/)) Mice

Proper hydration and a nutrient-rich diet can support overall cellular function, which may contribute to an optimal response

doi: 10.1097/00000478-199811000-00007

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In stark contrast, the expression of key gene families essential for maintaining tissue homeostasis was broadly suppressed

A study of seven families with ten children who have features of Rothmund-Thomson syndrome type 1 identified a deep intronic splicing variant in the ANAPC1 gene.[216] Five individuals were homozygous for this variant, and three individuals had a second predicted pathogenic variant in ANAPC1 in trans
