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However, it is worth emphasizing that the chemical form of selenium used and its concentration are crucial in this regard

Upon identification of several isoforms of amyloid precursor protein ( APP ) mRNA with a deletion followed by an insertion that accounted for epigenetic control of genomic rearrangements of APP gene in fibroblasts of patients with LNS, Nguyen proposed a role of epistasis between mutated HPRT1 and APP genes affecting the regulation of alternative APP pre-mRNA splicing as a possible pathophysiological mechanism of the severe neurobehavioral phenotype of LNS ( Cerebral Creatine Deficiency Syndromes Creatine serves as a donor of high-energy phosphates for the synthesis of hydrolyzed adenosine triphosphate

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1 (6), 6ra14 (2009)

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