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...
Enregistré dans:
| Auteurs principaux: | , , , , , , , , , , , , |
|---|---|
| Format: | Artigo |
| Langue: | anglais |
| Publié: |
2003
|
| Accès en ligne: | https://doi.org/10.1359/jbmr.2003.18.12.2095 https://onlinelibrary.wiley.com/doi/pdfdirect/10.1359/jbmr.2003.18.12.2095 |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|
Soyez le premier à ajouter un commentaire!