Title : A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.

Pub. Date : 2007 Sep

PMID : 17710231






2 Functional Relationships(s)
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1 Taken together, our findings provide what we believe to be the first evidence that loss-of-function mutations in human KL impair FGF23 bioactivity, underscoring the essential role of KL in FGF23-mediated phosphate and vitamin D homeostasis in humans. Phosphates klotho Homo sapiens
2 Taken together, our findings provide what we believe to be the first evidence that loss-of-function mutations in human KL impair FGF23 bioactivity, underscoring the essential role of KL in FGF23-mediated phosphate and vitamin D homeostasis in humans. Phosphates klotho Homo sapiens