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...
Saved in:
| Main Authors: | , , , , , , , , , , , , |
|---|---|
| 格式: | Artigo |
| 语言: | 英语 |
| 出版: |
2003
|
| 在线阅读: | https://doi.org/10.1359/jbmr.2003.18.12.2095 https://onlinelibrary.wiley.com/doi/pdfdirect/10.1359/jbmr.2003.18.12.2095 |
| 标签: |
添加标签
没有标签, 成为第一个标记此记录!
|