Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/jhg200760.pdf
Reference22 articles.
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3. Benet-Pagès A, Orlik P, Strom TM, Lorenz-Depiereux B (2005) An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. Hum Mol Genet 14:385–390
4. Bennet EP, Hassan H, Clausen H (1996) cDNA cloning and expression of a novel human UDP-N-acetyl-α-d-galactosamine. J Biol Chem 271:17006–17012
5. Berndt TJ, Schiavi S, Kumar R (2005) “Phosphatonins” and the regulation of phosphorus homeostasis. Am J Physiol Renal Physiol 289:F1170–F1182
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