Article
The role of mutant UDP-N-acetyl-alpha-D-galactosamine-polypeptide N-acetylgalactosaminyltransferase 3 in regulating serum intact fibroblast growth factor 23 and matrix extracellular phosphoglycoprotein in heritable tumoral calcinosis.
The Journal of clinical endocrinology and metabolism - 1 Oct 2006
Garringer Holly J, Fisher Corinne, Larsson Tobias E, Davis Siobhan I, Koller Daniel L, Cullen Michael J, Draman Mohamad S, Conlon Niamh, Jain Alka, Fedarko Neal S, Dasgupta Bhaskar, White Kenneth E
Abstract excerpt
CONTEXT: Familial tumoral calcinosis (TC) results from disruptions in phosphate metabolism and is characterized by high serum phosphate with normal or elevated 1,25 dihydroxyvitamin vitamin D concentrations and ectopic and vascular calcifications. Recessive loss-of-function mutations in UDP-N-acetyl-alpha-D-galactosamine-polypeptide N-acetylgalactosaminyltransferase 3 (GALNT3) and fibroblast growth factor-23...
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