The expanding family of hypophosphatemic syndromes
Author:
Publisher
Springer Science and Business Media LLC
Subject
Endocrinology,Orthopedics and Sports Medicine,General Medicine,Endocrinology, Diabetes and Metabolism
Link
http://link.springer.com/content/pdf/10.1007/s00774-011-0340-2.pdf
Reference66 articles.
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2. Francis F (1995) A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium. Nat Genet 11:130–136
3. Ruchon AF, Marcinkiewicz M, Siegfried G, Tenenhouse HS, DesGroseillers L, Crine P, Boileau G (1998) Pex mRNA is localized in developing mouse osteoblasts and odontoblasts. J Histochem Cytochem 46:459–468
4. Sabbagh Y, Boileau G, DesGroseillers L, Tenenhouse HS (2001) Disease-causing missense mutations in the PHEX gene interfere with membrane targeting of the recombinant protein. Hum Mol Genet 10:1539–1546
5. Bowe AE, Finnegan R, Jan de Beur SM, Cho J, Levine MA, Kumar R, Schiavi SC (2001) FGF-23 inhibits renal tubular phosphate transport and is a PHEX substrate. Biochem Biophys Res Commun 284:977–981
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