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Mary Scott Ramnitz, Pravitt Gourh, Raphaela Goldbach-Mansky, Felasfa Wodajo, Shoji Ichikawa, Michael J Econs, Kenneth E White, Alfredo Molinolo, Marcus Y Chen, Theo Heller, Jaydira Del Rivero, Patricia Seo-Mayer, Bita Arabshahi, Malaka B Jackson, Sarah Hatab, Edward McCarthy, Lori C Guthrie, Beth A Brillante, Rachel I Gafni, Michael T Collins

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2017;31(10):1845-1854

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Hyperphosphatemic familial tumoral calcinosis: genetic models of deficient FGF23 action.

Erik A Imel, Lisal J Folsom

Current osteoporosis reports 2016;13(2):78-87

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Finding genes and variants for lipid levels after genome-wide association analysis.

Karen L Mohlke, Cristen J Willer

Current opinion in lipidology 2012;23(2):98-103

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Genome-wide association study of circulating vitamin D-binding protein.

Kai Yu, Stephen J Chanock, Demetrius Albanes, Charles C Chung, Kristin A Moy, Satu Männistö, William Wheeler, Stephanie J Weinstein, Han Zhang, Alison M Mondul

The American journal of clinical nutrition 2015;99(6):1424-31

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Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature.

Silje Rafaelsen, Stefan Johansson, Helge Ræder, Robert Bjerknes

BMC genetics 2015;15():98

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Results for ""Polypeptide N-acetylgalactosaminyltransferase""[mesh_terms]

Leveraging Genetics to Address the Role of GALNT2 on Atherogenic Dyslipidemia.

Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αKlotho).

The Multiplicity of Polypeptide GalNAc-Transferase: Assays, Inhibitors, and Structures.

Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis.

Tumoral calcinosis: a dental literature review and case report.

Site-specific protein O-glycosylation modulates proprotein processing - deciphering specific functions of the large polypeptide GalNAc-transferase gene family.

Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome.

Hyperphosphatemic familial tumoral calcinosis: genetic models of deficient FGF23 action.

Finding genes and variants for lipid levels after genome-wide association analysis.

Genome-wide association study of circulating vitamin D-binding protein.

Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature.

Results for

""Polypeptide N-acetylgalactosaminyltransferase""[mesh_terms]