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pubmed-article:17352649pubmed:abstractTextThe oldest person (60 yr) with juvenile Paget's disease is homozygous for the TNFRSF11B mutation 966_969delTGACinsCTT. Elevated circulating levels of immunoreactive OPG and soluble RANKL accompany this genetic defect that truncates the OPG monomer, preventing formation of OPG homodimers.lld:pubmed
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pubmed-article:17352649pubmed:articleTitleJuvenile Paget's disease: the second reported, oldest patient is homozygous for the TNFRSF11B "Balkan" mutation (966_969delTGACinsCTT), which elevates circulating immunoreactive osteoprotegerin levels.lld:pubmed
pubmed-article:17352649pubmed:affiliationCenter for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St Louis, Missouri 63131, USA. mwhyte@shrinenet.orglld:pubmed
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