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...
Сохранить в:
| Главные авторы: | , , , , , , , , , , , , |
|---|---|
| Формат: | Artigo |
| Язык: | английский |
| Опубликовано: |
2003
|
| Online-ссылка: | https://doi.org/10.1359/jbmr.2003.18.12.2095 https://onlinelibrary.wiley.com/doi/pdfdirect/10.1359/jbmr.2003.18.12.2095 |
| Метки: |
Добавить метку
Нет меток, Требуется 1-ая метка записи!
|
Ваш комментарий будет первым!