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Dysregulated glutathione metabolism impairs natural killer cell function in patients with acute leukemia - ScienceDirect
A later Molecules paper evaluated growth hormone receptor expression in tendon fibroblasts as a model readout [5]
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Indeed, a rare case has been described of a family presenting with a particularly mild PKD manifestation, with recessive inheritance that was caused by a homozygous inheritance of a hypomorphic PKD1 mutation (p.R3277C) (4)
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