Idiopathic Hyperphosphatasia and <i>TNFRSF11B</i> Mutations: Relationships Between Phenotype and Genotype

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...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Belinda Chong, Madhuri Hegde, Matthew Fawkner, Scott Simonet, Hamilton Cassinelli, Mahmut Çöker, John А. Kanis, J. Seidel, Cristina Tau, Beyhan Tüysüz, Bilgin Yüksel, Donald R. Love, Tim Cundy
Médium: Artigo
Jazyk:angličtina
Vydáno: 2003
On-line přístup:https://doi.org/10.1359/jbmr.2003.18.12.2095
https://onlinelibrary.wiley.com/doi/pdfdirect/10.1359/jbmr.2003.18.12.2095
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!

Internet

https://doi.org/10.1359/jbmr.2003.18.12.2095
https://onlinelibrary.wiley.com/doi/pdfdirect/10.1359/jbmr.2003.18.12.2095

Podobné jednotky