Idiopathic Hyperphosphatasia and <i>TNFRSF11B</i> Mutations: Relationships Between Phenotype and Genotype
Abstract Homozygous mutations in TNFRSF11B, the gene encoding osteoprotegerin, were found in affected members from six of nine families with idiopathic hyperphosphatasia. The severity of the phenotype was related to the predicted effects of the mutations on osteoprotegerin function. Introduction: Id...
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| Main Authors: | , , , , , , , , , , , , |
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| פורמט: | Artigo |
| שפה: | אנגלית |
| יצא לאור: |
2003
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| גישה מקוונת: | https://doi.org/10.1359/jbmr.2003.18.12.2095 https://onlinelibrary.wiley.com/doi/pdfdirect/10.1359/jbmr.2003.18.12.2095 |
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