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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| 主要な著者: | , , , , , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | 英語 |
| 出版事項: |
2003
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| オンライン･アクセス: | 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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