Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders-Reference-Cited by-同舟云学术

Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders

Published:2004-12-15 Issue:1 Volume:83 Page:33-38
ISSN:0946-2716
Container-title:Journal of Molecular Medicine
language:en
Short-container-title:J Mol Med

Author:

Frishberg Yaacov,Topaz Orit,Bergman Reuven,Behar Doron,Fisher Drora,Gordon Derek,Richard Gabriele,Sprecher Eli

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Drug Discovery,Molecular Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00109-004-0610-8.pdf

Reference19 articles.

1. Quarles LD (2003) FGF23, PHEX, and MEPE regulation of phosphate homeostasis and skeletal mineralization. Am J Physiol Endocrinol Metab 285: E1?E9

2. Schiavi SC, Kumar R (2004) The phosphatonin pathway: new insights in phosphate homeostasis. Kidney Int 65:1?14

3. ADHR Consortium (2000) Autosomal dominant hypophosphatemic rickets is associated with mutations in FGF 23. Nat Genet 26:345?348

4. The HYP Consortium (1995) Agene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. Nat Genet 11:130?136

5. Prie D, Huart V, Bakouh N, Planelles G, Dellis O, Gerard B, Hulin P, Benque-Blanchet F, Silve C, Grandchamp B, Friedlander G (2002) Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter. N Engl J Med 347:983?991

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