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Defective O-Glycosylation due to a Novel Homozygous S129P Mutation Is Associated with Lack of Fibroblast Growth Factor 23 Secretion and Tumoral Calcinosis
Journal of Clinical Endocrinology and Metabolism, 10/29/09
Bergwitz C et al. – The data for the first time directly show that FGF23 mutations associated with HFTC impair O–glycosylation in vitro resulting in poor secretion of the mutant hormone thereby explaining the characteristic hyperphosphatemic phenotype of homozygous carriers in vivo.
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Cytotoxic T lymphocyte antigen-4 Ala17 polymorphism is a genetic marker of autoimmune adrenal insufficiency: Italian association study and meta-analysis of European studies
European Journal of Endocrinology, 11/05/09
PTH and IL21R May Underlie Variation of Femoral Neck Bone Mineral Density as Revealed by a Genome-Wide Association Study
Journal of Bone and Mineral Research, 11/03/09
Bone signaling pathways and treatment of osteoporosis
Expert Review of Endocrinology & Metabolism, 11/10/09
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