Article
[From gene to disease; hypophosphataemic rickets and the PHEX gene].
Nederlands tijdschrift voor geneeskunde - 24 Jun 2006
Jansen M, van Dael C M L, Verrijn Stuart A A, van der Hout A H, Rump P
Abstract excerpt
X-linked hypophosphataemic rickets is associated with mutations in the PHEX gene on the short arm of the X chromosome, encoding a membrane-bound endoprotease which is predominantly expressed in osteoblasts. Defective PHEX function leaves phosphaturic peptides such as FGF23 uncleaved, enabling these peptides, known as phosphatonins, to fully exert their phosphaturic potential in the proximal tubule of the kidney....
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